Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.T700A

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.T700A
c.2098A>G
Surrounding Variants
1 paper
NM_005544.3
p.G702W
c.2104G>T
1 paper
NM_005544.3
p.G702R
c.2104G>C
1 paper
NM_005544.3
p.G702R
c.2104G>A
1 paper
NM_005544.3
p.G702A
c.2105G>C
1 paper
NM_005544.3
p.Y695F
c.2084A>T
1 paper
NM_005544.3
p.S691S
c.2073C>T
4 papers
NM_005544.3
p.S686_N687del2
c.2056_2060del6
7 papers
NM_005544.3
p.S686del1
c.2056_2057delGCT
1 paper
NM_005544.3
p.S685_N687del0
c.2054_2059del6
1 paper
NM_005544.3
p.H713Y
c.2137C>T
1 paper
NM_005544.3
p.S682G
c.2044A>G
2 papers
NM_005544.3
p.E719K
c.2155G>A
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