Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.S428L

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.S428L
c.1283C>T
Surrounding Variants
1 paper
NM_005544.3
p.G424_S427del4
c.1270_1280del12
1 paper
NM_005544.3
p.S428S
c.1284G>A
1 paper
NM_005544.3
p.D429V
c.1286A>T
1 paper
NM_005544.3
p.D429G
c.1286A>G
1 paper
NM_005544.3
p.D429A
c.1286A>C
1 paper
NM_005544.3
p.A414_S428del15
c.1240_1283del45
1 paper
NM_005544.3
p.S427A
c.1279T>G
1 paper
NM_005544.3
p.E430D
c.1290G>T
1 paper
NM_005544.3
p.D422D
c.1266T>C
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.S434R
c.1302T>G
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