Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.N648S

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
2 papers
NM_005544.3
p.N648S
c.1943A>G
Surrounding Variants
1 paper
NM_005544.3
p.P649H
c.1946C>A
1 paper
NM_005544.3
p.R651G
c.1951A>G
2 papers
NM_005544.3
p.Q655H
c.1965G>T
2 papers
NM_005544.3
p.Q655H
c.1965G>C
1 paper
NM_005544.3
p.P659S
c.1975C>T
1 paper
NM_005544.3
p.Y662F
c.1985A>T
2 papers
NM_005544.3
p.Y632F
c.1895A>T
1 paper
NM_005544.3
p.M664I
c.1992G>T
1 paper
NM_005544.3
p.M664I
c.1992G>C
1 paper
NM_005544.3
p.M664I
c.1992G>A
1 paper
NM_005544.3
p.S666A
c.1996T>G
1 paper
NM_005544.3
p.G630V
c.1889G>T
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