Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.D731G

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.D731G
c.2192A>G
Surrounding Variants
1 paper
NM_005544.3
p.Y732*
c.2196C>G
1 paper
NM_005544.3
p.Y732*
c.2196C>A
1 paper
NM_005544.3
p.N734I
c.2201A>T
1 paper
NM_005544.3
p.M735K
c.2204T>A
1 paper
NM_005544.3
p.S736A
c.2206T>G
1 paper
NM_005544.3
p.V738A
c.2213T>C
2 papers
NM_005544.3
p.G739G
c.2217G>C
1 paper
NM_005544.3
p.G722G
c.2166T>G
3 papers
NM_005544.3
p.G722S
c.2164G>A
2 papers
NM_005544.3
p.E719K
c.2155G>A
1 paper
NM_005544.3
p.D748N
c.2242G>A
1 paper
NM_005544.3
p.H713Y
c.2137C>T
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