Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.D602E

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.D602E
c.1806C>A
Surrounding Variants
1 paper
NM_005544.3
p.D602E
c.1806C>G
1 paper
NM_005544.3
p.P601L
c.1802C>T
1 paper
NM_005544.3
p.R600P
c.1799G>C
4 papers
NM_005544.3
p.H598fs
c.1792_1793fs
8 papers
NM_005544.3
p.G597insFs
c.1791dupG
9 papers
NM_005544.3
p.G597delFs
c.1791delC
5 papers
NM_005544.3
p.H598fs
c.1792_1793fs
4 papers
NM_005544.3
p.G597fs
c.1789_1790fs
1 paper
NM_005544.3
p.T608M
c.1823C>T
9 papers
NM_005544.3
p.T608R
c.1823C>G
1 paper
NM_005544.3
p.G596R
c.1786G>C
1 paper
NM_005544.3
p.G596R
c.1786G>A
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