Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.T397_S398insFs

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.T397_S398insFs
c.1191_1192insG
Surrounding Variants
1 paper
NM_005544.3
p.S398C
c.1192A>T
1 paper
NM_005544.3
p.S388_S393delFs
c.1164_1179del16
1 paper
NM_005544.3
p.S393L
c.1178C>T
1 paper
NM_005544.3
p.S391fs
c.1171_1172fs
1 paper
NM_005544.3
p.V390D
c.1169T>A
1 paper
NM_005544.3
p.P389P
c.1167G>T
1 paper
NM_005544.3
p.S385S
c.1155G>A
2 papers
NM_005544.3
p.R410W
c.1228C>T
2 papers
NM_005544.3
p.R411*
c.1231C>T
1 paper
NM_005544.3
p.S412S
c.1236T>C
1 paper
NM_005544.3
p.C382Y
c.1145G>A
1 paper
NM_005544.3
p.R381C
c.1141C>T
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