Varaico: Literature-Extracted Genetic Variants

Gene:IRS4
Variant:p.S512P

IRS4

161 papers

RefSeq Summary

IRS4 encodes the insulin receptor substrate 4, a cytoplasmic protein that contains many potential tyrosine and serine/threonine phosphorylation sites. Tyrosine-phosphorylated IRS4 protein has been sho...

Pfam Domains

IRSaa 237–332UCSCPTB domain (IRS-1 type)

Gene Aliases

HGNC Name

insulin receptor substrate 4

HGNC Alias Symbols

PY160; IRS-4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001379150.1
p.S512P
c.1534T>C
Surrounding Variants
1 paper
NM_001379150.1
p.N508K
c.1524T>G
1 paper
NM_001379150.1
p.N508K
c.1524T>A
1 paper
NM_001379150.1
p.R499W
c.1495C>T
3 papers
NM_001379150.1
p.S529_R530insFs
c.1587_1588insT
4 papers
NM_001379150.1
p.R530fs
c.1588_1589fs
1 paper
NM_001379150.1
p.S483R
c.1449C>G
1 paper
NM_001379150.1
p.S483R
c.1449C>A
1 paper
NM_001379150.1
p.S483R
c.1447A>C
1 paper
NM_001379150.1
p.G482E
c.1445G>A
1 paper
NM_001379150.1
p.G482R
c.1444G>C
1 paper
NM_001379150.1
p.G482R
c.1444G>A
1 paper
NM_001379150.1
p.G542E
c.1625G>A
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