Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.H250P

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.H250P
c.749A>C
Surrounding Variants
1 paper
NM_005544.3
p.H250N
c.748C>A
1 paper
NM_005544.3
p.M249T
c.746T>C
2 papers
NM_005544.3
p.T252I
c.755C>T
2 papers
NM_005544.3
p.A246D
c.737C>A
1 paper
NM_005544.3
p.A246S
c.736G>T
1 paper
NM_005544.3
p.A256G
c.767C>G
1 paper
NM_005544.3
p.D242N
c.724G>A
1 paper
NM_005544.3
p.R265S
c.793C>A
1 paper
NM_005544.3
p.E235K
c.703G>A
1 paper
NM_005544.3
p.G234G
c.702G>C
3 papers
NM_005544.3
p.G234G
c.702G>A
1 paper
NM_005544.3
p.P266L
c.797C>T
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