Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.L762L

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.L762L
c.2286C>T
Surrounding Variants
1 paper
NM_005544.3
p.H773Y
c.2317C>T
1 paper
NM_005544.3
p.G752S
c.2254G>A
1 paper
NM_005544.3
p.H773L
c.2318A>T
1 paper
NM_005544.3
p.Y751C
c.2252A>G
1 paper
NM_005544.3
p.P777S
c.2329C>T
1 paper
NM_005544.3
p.D748N
c.2242G>A
1 paper
NM_005544.3
p.E779K
c.2335G>A
1 paper
NM_005544.3
p.P780L
c.2339C>T
1 paper
NM_005544.3
p.E782D
c.2346G>T
1 paper
NM_005544.3
p.E782D
c.2346G>C
2 papers
NM_005544.3
p.G739G
c.2217G>C
1 paper
NM_005544.3
p.V738A
c.2213T>C
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