Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.R1221C

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
5 papers
NM_005544.3
p.R1221C
c.3661C>T
Surrounding Variants
1 paper
NM_005544.3
p.S1218P
c.3652T>C
1 paper
NM_005544.3
p.S1216S
c.3648C>T
1 paper
NM_005544.3
p.L1226I
c.3676T>A
1 paper
NM_005544.3
p.Y1229F
c.3686A>T
1 paper
NM_005544.3
p.G1212V
c.3635G>T
1 paper
NM_005544.3
p.L1211R
c.3632T>G
1 paper
NM_005544.3
p.L1211P
c.3632T>C
1 paper
NM_005544.3
p.P1207ins1
c.3620_3621insCCC
1 paper
NM_005544.3
p.P1207P
c.3621T>C
1 paper
NM_005544.3
p.Q1235*
c.3703C>T
1 paper
NM_005544.3
p.P1207S
c.3619C>T
1 paper
NM_005544.3
p.P1206P
c.3618C>T
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