Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.S1105P

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.S1105P
c.3313T>C
Surrounding Variants
1 paper
NM_005544.3
p.T1103A
c.3307A>G
1 paper
NM_005544.3
p.E1102K
c.3304G>A
1 paper
NM_005544.3
p.S1101A
c.3301T>G
1 paper
NM_005544.3
p.S1101T
c.3301T>A
1 paper
NM_005544.3
p.R1112W
c.3334C>T
1 paper
NM_005544.3
p.R1098W
c.3292A>T
1 paper
NM_005544.3
p.R1097Q
c.3290G>A
1 paper
NM_005544.3
p.V1113M
c.3337G>A
1 paper
NM_005544.3
p.R1097W
c.3289C>T
1 paper
NM_005544.3
p.R1096L
c.3287G>T
2 papers
NM_005544.3
p.R1096W
c.3286C>T
3 papers
NM_005544.3
p.C1095Y
c.3284G>A
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