Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.E1052K

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.E1052K
c.3154G>A
Surrounding Variants
2 papers
NM_005544.3
p.G1049R
c.3145G>C
2 papers
NM_005544.3
p.G1049R
c.3145G>A
1 paper
NM_005544.3
p.H1056H
c.3168C>T
2 papers
NM_005544.3
p.S1057S
c.3171G>A
1 paper
NM_005544.3
p.L1060fs
c.3178_3179fs
5 papers
NM_005544.3
p.S1043Y
c.3128C>A
1 paper
NM_005544.3
p.S1041A
c.3121T>G
1 paper
NM_005544.3
p.A1040G
c.3119C>G
1 paper
NM_005544.3
p.G1065R
c.3193G>A
1 paper
NM_005544.3
p.P1066S
c.3196C>T
1 paper
NM_005544.3
p.P1066L
c.3197C>T
1 paper
NM_005544.3
p.S1036L
c.3107C>T
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