Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.Y558_R572del0

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.Y558_R572del0
c.1673_1714del42
Surrounding Variants
1 paper
NM_005544.3
p.G570insFs
c.1708_1709ins8
1 paper
NM_005544.3
p.L568_F576del0
c.1704_1727del24
1 paper
NM_005544.3
p.F576_V577del1
c.1728_1730delACG
1 paper
NM_005544.3
p.P578T
c.1732C>A
1 paper
NM_005544.3
p.P559_G565del0
c.1675_1695del21
3 papers
NM_005544.3
p.R580G
c.1738C>G
1 paper
NM_005544.3
p.S564I
c.1691G>T
1 paper
NM_005544.3
p.S564N
c.1691G>A
1 paper
NM_005544.3
p.M554_G563del0
c.1662_1688del27
1 paper
NM_005544.3
p.G563A
c.1688G>C
1 paper
NM_005544.3
p.A557_G562del6
c.1669_1685del18
1 paper
NM_005544.3
p.A557_G562del0
c.1671_1685del15
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