Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.R443P

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.R443P
c.1328G>C
Surrounding Variants
1 paper
NM_005544.3
p.R443L
c.1328G>T
1 paper
NM_005544.3
p.R443H
c.1328G>A
1 paper
NM_005544.3
p.R443C
c.1327C>T
1 paper
NM_005544.3
p.S441F
c.1322C>T
1 paper
NM_005544.3
p.R439W
c.1315C>T
1 paper
NM_005544.3
p.P435P
c.1305C>A
1 paper
NM_005544.3
p.P435L
c.1304C>T
1 paper
NM_005544.3
p.S434R
c.1302T>G
1 paper
NM_005544.3
p.S434R
c.1302T>A
1 paper
NM_005544.3
p.S434C
c.1300A>T
1 paper
NM_005544.3
p.S434R
c.1300A>C
1 paper
NM_005544.3
p.T453_P454insFs
c.1359_1360insA
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