Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.T311del1

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.T311del1
c.931_932delGGT
Surrounding Variants
3 papers
NM_005544.3
p.S312A
c.934T>G
1 paper
NM_005544.3
p.P313S
c.937C>T
1 paper
NM_005544.3
p.P313L
c.938C>T
1 paper
NM_005544.3
p.S315_M316insC
c.943_947ins3
1 paper
NM_005544.3
p.M316L
c.946A>T
1 paper
NM_005544.3
p.M316V
c.946A>G
1 paper
NM_005544.3
p.S307I
c.920G>T
1 paper
NM_005544.3
p.E306K
c.916G>A
1 paper
NM_005544.3
p.T305A
c.913A>G
1 paper
NM_005544.3
p.R302Q
c.905G>A
1 paper
NM_005544.3
p.G322insFs
c.965_966insC
1 paper
NM_005544.3
p.R301H
c.902G>A
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