Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.G1172G

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.G1172G
c.3516T>G
Surrounding Variants
1 paper
NM_005544.3
p.L1177F
c.3529C>T
1 paper
NM_005544.3
p.Y1179F
c.3536A>T
1 paper
NM_005544.3
p.Y1179C
c.3536A>G
1 paper
NM_005544.3
p.I1180V
c.3538A>G
1 paper
NM_005544.3
p.A1164_Y1179del16
c.3490_3536del48
2 papers
NM_005544.3
p.D1181H
c.3541G>C
1 paper
NM_005544.3
p.P1163P
c.3489A>C
1 paper
NM_005544.3
p.L1182Q
c.3545T>A
1 paper
NM_005544.3
p.L1184F
c.3552G>T
1 paper
NM_005544.3
p.L1184F
c.3552G>C
1 paper
NM_005544.3
p.V1185I
c.3553G>A
3 papers
NM_005544.3
p.G1158E
c.3473G>A
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