Varaico: Literature-Extracted Genetic Variants

Gene:IRS2
Variant:p.R1218Q

IRS2

613 papers

RefSeq Summary

This gene encodes the insulin receptor substrate 2, a cytoplasmic signaling molecule that mediates effects of insulin, insulin-like growth factor 1, and other cytokines by acting as a molecular adapto...

Pfam Domains

PHaa 31–144UCSCPH domain
IRSaa 200–295UCSCPTB domain (IRS-1 type)

Gene Aliases

HGNC Name

insulin receptor substrate 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003749.3
p.R1218Q
c.3653G>A
Surrounding Variants
1 paper
NM_003749.3
p.G1223A
c.3668G>C
1 paper
NM_003749.3
p.P1212delFs
c.3635delG
1 paper
NM_003749.3
p.P1212fs
c.3634_3635fs
1 paper
NM_003749.3
p.P1212S
c.3634C>T
1 paper
NM_003749.3
p.P1225A
c.3673C>G
1 paper
NM_003749.3
p.G1230R
c.3688G>C
3 papers
NM_003749.3
p.G1230S
c.3688G>A
1 paper
NM_003749.3
p.Q1206R
c.3617A>G
1 paper
NM_003749.3
p.R1205L
c.3614G>T
2 papers
NM_003749.3
p.G1233V
c.3698G>T
1 paper
NM_003749.3
p.S1234I
c.3701G>T
1 paper
NM_003749.3
p.T1202S
c.3605C>G
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