Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.G818R

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
11 papers
NM_005544.3
p.G818R
c.2452G>C
Surrounding Variants
11 papers
NM_005544.3
p.G818R
c.2452G>A
1 paper
NM_005544.3
p.G817D
c.2450G>A
7 papers
NM_005544.3
p.G819R
c.2455G>C
7 papers
NM_005544.3
p.G819R
c.2455G>A
1 paper
NM_005544.3
p.D814N
c.2440G>A
6 papers
NM_005544.3
p.S809F
c.2426C>T
2 papers
NM_005544.3
p.D806G
c.2417A>G
4 papers
NM_005544.3
p.A804A
c.2412A>G
1 paper
NM_005544.3
p.H831R
c.2492A>G
3 papers
NM_005544.3
p.H831Q
c.2493T>G
3 papers
NM_005544.3
p.H831Q
c.2493T>A
1 paper
NM_005544.3
p.H834Y
c.2500C>T
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