Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.P376L

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
2 papers
NM_005544.3
p.P376L
c.1127C>T
Surrounding Variants
1 paper
NM_005544.3
p.P378A
c.1132C>G
1 paper
NM_005544.3
p.S374F
c.1121C>T
1 paper
NM_005544.3
p.S374A
c.1120T>G
1 paper
NM_005544.3
p.R373H
c.1118G>A
2 papers
NM_005544.3
p.R373C
c.1117C>T
1 paper
NM_005544.3
p.R381C
c.1141C>T
1 paper
NM_005544.3
p.C382Y
c.1145G>A
1 paper
NM_005544.3
p.N370S
c.1109A>G
1 paper
NM_005544.3
p.L369V
c.1105C>G
1 paper
NM_005544.3
p.P368insFs
c.1102_1103insC
1 paper
NM_005544.3
p.P368fs
c.1102_1103fs
1 paper
NM_005544.3
p.S385S
c.1155G>A
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