Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.H713Y

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.H713Y
c.2137C>T
Surrounding Variants
2 papers
NM_005544.3
p.E719K
c.2155G>A
3 papers
NM_005544.3
p.G722S
c.2164G>A
1 paper
NM_005544.3
p.G722G
c.2166T>G
1 paper
NM_005544.3
p.G702A
c.2105G>C
1 paper
NM_005544.3
p.G702W
c.2104G>T
1 paper
NM_005544.3
p.G702R
c.2104G>C
1 paper
NM_005544.3
p.G702R
c.2104G>A
1 paper
NM_005544.3
p.T700A
c.2098A>G
1 paper
NM_005544.3
p.Y695F
c.2084A>T
1 paper
NM_005544.3
p.D731G
c.2192A>G
1 paper
NM_005544.3
p.Y732*
c.2196C>G
1 paper
NM_005544.3
p.Y732*
c.2196C>A
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