Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.P893_G894del2

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.P893_G894del2
c.2677_2681del6
Surrounding Variants
1 paper
NM_005544.3
p.P893P
c.2679G>C
1 paper
NM_005544.3
p.S892I
c.2675G>T
15 papers
NM_005544.3
p.S892G
c.2674A>G
1 paper
NM_005544.3
p.K891N
c.2673G>C
1 paper
NM_005544.3
p.P887R
c.2660C>G
2 papers
NM_005544.3
p.Q882_P883del2
c.2644_2648del6
1 paper
NM_005544.3
p.S906C
c.2717C>G
2 papers
NM_005544.3
p.Q882del1
c.2644_2645delCTG
1 paper
NM_005544.3
p.L909W
c.2726T>G
1 paper
NM_005544.3
p.P912R
c.2735C>G
1 paper
NM_005544.3
p.A874fs
c.2620_2621fs
1 paper
NM_005544.3
p.H916Y
c.2746C>T
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