Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.P679T

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.P679T
c.2035C>A
Surrounding Variants
1 paper
NM_005544.3
p.G678_P679Fs
c.2034_2035delinsAFs
1 paper
NM_005544.3
p.P679L
c.2036C>T
1 paper
NM_005544.3
p.S682G
c.2044A>G
2 papers
NM_005544.3
p.D674H
c.2020G>C
1 paper
NM_005544.3
p.S672F
c.2015C>T
7 papers
NM_005544.3
p.S686del1
c.2056_2057delGCT
1 paper
NM_005544.3
p.S685_N687del0
c.2054_2059del6
4 papers
NM_005544.3
p.S686_N687del2
c.2056_2060del6
2 papers
NM_005544.3
p.S668T
c.2003G>C
1 paper
NM_005544.3
p.S691S
c.2073C>T
1 paper
NM_005544.3
p.S666A
c.1996T>G
1 paper
NM_005544.3
p.M664I
c.1992G>T
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