Varaico: Literature-Extracted Genetic Variants

Gene:HEXIM2
Variant:p.Y197*

HEXIM2

25 papers

RefSeq Summary

This gene encodes a member of the HEXIM family of proteins. This protein is a component of the 7SK small nuclear ribonucleoprotein. This protein has been found to negatively regulate the kinase activi...

Pfam Domains

HEXIMaa 102–227UCSCHexamethylene bis-acetamide-inducible protein

Gene Aliases

HGNC Name

HEXIM P-TEFb complex subunit 2

HGNC Alias Symbol

FLJ32384

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001303441.2
p.Y197*
c.591C>A
Surrounding Variants
1 paper
NM_001303441.2
p.Y197*
c.591C>G
1 paper
NM_001303441.2
p.T196A
c.586A>G
1 paper
NM_001303441.2
p.R181W
c.541C>T
2 papers
NM_001303441.2
p.E129D
c.387A>C
2 papers
NM_001303441.2
p.E129D
c.387A>T
1 paper
NM_001303441.2
p.R267C
c.799C>T
1 paper
NM_001303441.2
p.G277S
c.829G>A
1 paper
NM_001303441.2
p.D281V
c.842A>T
1 paper
NM_001303441.2
p.S109N
c.326G>A
1 paper
NM_001303441.2
p.K99insFs
c.296_297ins47
1 paper
NM_001303441.2
p.S96P
c.286T>C
1 paper
NM_001303441.2
p.R93Q
c.278G>A
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