Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.H831Q

IRS1

686 papers

RefSeq Summary

This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided...

Pfam Domains

PHaa 8–115UCSCPH domain
IRSaa 166–261UCSCPTB domain (IRS-1 type)

Gene Aliases

HGNC Name

insulin receptor substrate 1

HGNC Alias Symbol

HIRS-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_005544.3
p.H831Q
c.2493T>G
Surrounding Variants
3 papers
NM_005544.3
p.H831Q
c.2493T>A
1 paper
NM_005544.3
p.H831R
c.2492A>G
1 paper
NM_005544.3
p.H834Y
c.2500C>T
1 paper
NM_005544.3
p.Q835H
c.2505G>C
1 paper
NM_005544.3
p.Q838*
c.2512C>T
1 paper
NM_005544.3
p.H840N
c.2518C>A
1 paper
NM_005544.3
p.R843Q
c.2528G>A
7 papers
NM_005544.3
p.G819R
c.2455G>C
7 papers
NM_005544.3
p.G819R
c.2455G>A
11 papers
NM_005544.3
p.G818R
c.2452G>C
11 papers
NM_005544.3
p.G818R
c.2452G>A
1 paper
NM_005544.3
p.G817D
c.2450G>A
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