Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.M613V

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
3 papers
NM_005544.3
p.M613V
c.1837A>G
Surrounding Variants
2 papers
NM_005544.3
p.Y612F
c.1835A>T
1 paper
NM_005544.3
p.Y612C
c.1835A>G
1 paper
NM_005544.3
p.S616A
c.1846T>G
1 paper
NM_005544.3
p.D609delFs
c.1825delC
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.G618V
c.1853G>T
1 paper
NM_005544.3
p.A620T
c.1858G>A
1 paper
NM_005544.3
p.A620A
c.1860C>T
1 paper
NM_005544.3
p.D602E
c.1806C>G
1 paper
NM_005544.3
p.D602E
c.1806C>A
1 paper
NM_005544.3
p.P601L
c.1802C>T
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