Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.K161N

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.K161N
c.483A>C
Surrounding Variants
1 paper
NM_005544.3
p.K161N
c.483A>T
1 paper
NM_005544.3
p.W164L
c.491G>T
1 paper
NM_005544.3
p.W164*
c.491G>A
1 paper
NM_005544.3
p.A159T
c.475G>A
1 paper
NM_005544.3
p.W164C
c.492G>T
1 paper
NM_005544.3
p.W164C
c.492G>C
1 paper
NM_005544.3
p.P158R
c.473C>G
1 paper
NM_005544.3
p.G157R
c.469G>A
1 paper
NM_005544.3
p.P156L
c.467C>T
2 papers
NM_005544.3
p.P155L
c.464C>T
2 papers
NM_005544.3
p.P155T
c.463C>A
1 paper
NM_005544.3
p.V154insFs
c.460dupG
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