Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.Y551_A557del0

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.Y551_A557del0
c.1652_1669del18
Surrounding Variants
1 paper
NM_005544.3
p.P556_A557del1
c.1668_1670delGCA
1 paper
NM_005544.3
p.E553_A557del0
c.1659_1670del12
1 paper
NM_005544.3
p.P556P
c.1668T>G
1 paper
NM_005544.3
p.P556_Y558del0
c.1667_1672del6
1 paper
NM_005544.3
p.E550_Y558delFs
c.1648_1672del25
1 paper
NM_005544.3
p.Y551_M555del0
c.1653_1664del12
1 paper
NM_005544.3
p.P559L
c.1676C>T
1 paper
NM_005544.3
p.P556_P560del0
c.1668_1679del12
1 paper
NM_005544.3
p.P559del1
c.1675_1676delTGG
1 paper
NM_005544.3
p.G561E
c.1682G>A
1 paper
NM_005544.3
p.P556_G561del0
c.1667_1681del15
1 paper
NM_005544.3
p.M554_G561del0
c.1660_1683del24
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