Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.R580G

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
3 papers
NM_005544.3
p.R580G
c.1738C>G
Surrounding Variants
1 paper
NM_005544.3
p.P578T
c.1732C>A
1 paper
NM_005544.3
p.F576_V577del1
c.1728_1730delACG
1 paper
NM_005544.3
p.L568_F576del0
c.1704_1727del24
1 paper
NM_005544.3
p.Y558_R572del0
c.1673_1714del42
1 paper
NM_005544.3
p.G570insFs
c.1708_1709ins8
1 paper
NM_005544.3
p.P559_G565del0
c.1675_1695del21
1 paper
NM_005544.3
p.R594G
c.1780C>G
2 papers
NM_005544.3
p.R594H
c.1781G>A
1 paper
NM_005544.3
p.S564I
c.1691G>T
1 paper
NM_005544.3
p.R595fs
c.1783_1784fs
1 paper
NM_005544.3
p.S564N
c.1691G>A
1 paper
NM_005544.3
p.G596R
c.1786G>C
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