Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.P997S

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
1 paper
NM_005544.3
p.P997S
c.2989C>T
Surrounding Variants
1 paper
NM_005544.3
p.D1003Y
c.3007G>T
1 paper
NM_005544.3
p.D1003H
c.3007G>C
1 paper
NM_005544.3
p.M990V
c.2968A>G
2 papers
NM_005544.3
p.D1014G
c.3041A>G
3 papers
NM_005544.3
p.I1019T
c.3056T>C
1 paper
NM_005544.3
p.A1021T
c.3061G>A
1 paper
NM_005544.3
p.G971A
c.2912G>C
38 papers
NM_005544.3
p.G971R
c.2911G>C
40 papers
NM_005544.3
p.G971R
c.2911G>A
1 paper
NM_005544.3
p.P970A
c.2908C>G
1 paper
NM_005544.3
p.P970T
c.2908C>A
1 paper
NM_005544.3
p.G963insFs
c.2887_2888insTC
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