Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.N1080Y

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.N1080Y
c.3238A>T
Surrounding Variants
6 papers
NM_005544.3
p.P1079S
c.3235C>T
1 paper
NM_005544.3
p.R1081C
c.3241C>T
1 paper
NM_005544.3
p.A1085T
c.3253G>A
1 paper
NM_005544.3
p.K1086E
c.3256A>G
1 paper
NM_005544.3
p.A1071T
c.3211G>A
1 paper
NM_005544.3
p.R1089C
c.3265C>T
1 paper
NM_005544.3
p.R1089L
c.3266G>T
1 paper
NM_005544.3
p.R1089H
c.3266G>A
1 paper
NM_005544.3
p.D1091N
c.3271G>A
1 paper
NM_005544.3
p.P1092L
c.3275C>T
1 paper
NM_005544.3
p.P1066L
c.3197C>T
1 paper
NM_005544.3
p.P1066S
c.3196C>T
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