ConVarT

PIM2 (GeneID: 11040) | Homo sapiens

Description:	Pim-2 proto-oncogene, serine/threonine kinase [Source:HGNC Symbol;Acc:HGNC:8987]
Synonyms:
Other ID(s):	ENSG00000102096, HGNC:8987
Protein Accession Numbers:	NP_006866, ENST00000442430, ENST00000601083, ENST00000376509, ENST00000593302
Statistics:	gnomAD(65)

gnomAD Variants By Annotation

Missense Variant

Synonymous Variant

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000376509 ENST00000442430 ENST00000593302 ENST00000601083 NP_006866

ClinVar Data

Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Missense Variant

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
X-48771673-T-C	ENST00000442430	p.Pro145Pro	Synonymous Variant	0	0	0	rs781908132
X-48771679-G-C	ENST00000442430	p.Val143Val	Synonymous Variant	0	0	0	rs782650837
X-48771684-G-A	ENST00000442430	p.His142Tyr	Missense Variant	0	0	0	rs868968788
X-48771685-G-A	ENST00000442430	p.Ala141Ala	Synonymous Variant	0	0	0
X-48771709-C-A	ENST00000442430	p.Leu133Leu	Synonymous Variant	0	0	0
X-48771711-G-A	ENST00000442430	p.Leu133Leu	Synonymous Variant	1	21287	0.000047	rs781819504
X-48771724-C-T	ENST00000442430	p.Arg128Arg	Synonymous Variant	0	0	0	rs782493554
X-48771742-C-T	ENST00000442430	p.Gly122Gly	Synonymous Variant	0	0	0
X-48771753-T-C	ENST00000442430	p.Met119Val	Missense Variant	0	0	0	rs782556326
X-48771760-G-A	ENST00000442430	p.Leu116Leu	Synonymous Variant	0	0	0
X-48771763-G-A	ENST00000442430	p.Leu115Leu	Synonymous Variant	0	0	0	rs373492767
X-48771772-C-T	ENST00000442430	p.Leu112Leu	Synonymous Variant	1	21224	0.000047	rs782211152
X-48771781-G-C	ENST00000442430	p.Val109Val	Synonymous Variant	1	21202	0.000047
X-48771790-C-T	ENST00000442430	p.Pro106Pro	Synonymous Variant	0	0	0	rs147587155
X-48771793-G-A	ENST00000442430	p.Leu105Leu	Synonymous Variant	4	21172	0.000189	rs142106912
X-48771795-G-A	ENST00000442430	p.Leu105Phe	Missense Variant	0	0	0	rs781976601
X-48771796-T-G	ENST00000442430	p.Ala104Ala	Synonymous Variant	0	0	0	rs782052144
X-48771800-T-C	ENST00000442430	p.His103Arg	Missense Variant	5	21095	0.000237	rs150136276
X-48771802-G-A	ENST00000442430	p.Tyr102Tyr	Synonymous Variant	0	0	0	rs782018415
X-48771805-C-T	ENST00000442430	p.Gln101Gln	Synonymous Variant	0	0	0

Showing 1 to 20 of 65 entries

Previous1 2 3 4Next

Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position

dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
NO DOMAINS EXIST

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Leukemia, Myelocytic, Acute	Neoplasms ;	0.656	0.448
Acute Myeloid Leukemia, M1	Neoplasms ;	0.656	0.448
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.656	0.448
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data