Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.R493C

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.R493C
c.1477C>T
Surrounding Variants
2 papers
NM_005544.3
p.T495insFs
c.1484_1485insG
1 paper
NM_005544.3
p.R487Q
c.1460G>A
1 paper
NM_005544.3
p.R487W
c.1459C>T
1 paper
NM_005544.3
p.G501ins2
c.1502_1503ins6
1 paper
NM_005544.3
p.G501ins2
c.1502_1503ins6
1 paper
NM_005544.3
p.G501D
c.1502G>A
1 paper
NM_005544.3
p.Y483C
c.1448A>G
1 paper
NM_005544.3
p.N480N
c.1440C>T
1 paper
NM_005544.3
p.L506F
c.1518G>T
1 paper
NM_005544.3
p.L506F
c.1518G>C
1 paper
NM_005544.3
p.P479S
c.1435C>T
1 paper
NM_005544.3
p.A478V
c.1433C>T
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