Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.S350C

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.S350C
c.1048A>T
Surrounding Variants
1 paper
NM_005544.3
p.R353T
c.1058G>C
1 paper
NM_005544.3
p.P346T
c.1036C>A
1 paper
NM_005544.3
p.H355H
c.1065C>T
1 paper
NM_005544.3
p.H355Q
c.1065C>G
1 paper
NM_005544.3
p.H355Q
c.1065C>A
4 papers
NM_005544.3
p.A356T
c.1066G>A
1 paper
NM_005544.3
p.S341L
c.1022C>T
2 papers
NM_005544.3
p.S341P
c.1021T>C
1 paper
NM_005544.3
p.A340P
c.1018G>C
1 paper
NM_005544.3
p.R360Q
c.1079G>A
1 paper
NM_005544.3
p.G361C
c.1081G>T
1 paper
NM_005544.3
p.R338C
c.1012C>T
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