Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.G529A

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.G529A
c.1586G>C
Surrounding Variants
1 paper
NM_005544.3
p.G529D
c.1586G>A
2 papers
NM_005544.3
p.S527A
c.1579T>G
1 paper
NM_005544.3
p.R522P
c.1565G>C
1 paper
NM_005544.3
p.R522*
c.1564C>T
1 paper
NM_005544.3
p.R520delFs
c.1560delC
1 paper
NM_005544.3
p.R520Q
c.1559G>A
1 paper
NM_005544.3
p.R520G
c.1558C>G
1 paper
NM_005544.3
p.S544_V545ins5
c.1630_1634ins15
1 paper
NM_005544.3
p.A546V
c.1637C>T
13 papers
NM_005544.3
p.A512P
c.1534G>C
1 paper
NM_005544.3
p.L506F
c.1518G>T
1 paper
NM_005544.3
p.L506F
c.1518G>C
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