Varaico: Literature-Extracted Genetic Variants

Gene:RIPOR2
Variant:p.D900Y

RIPOR2

58 papers

RefSeq Summary

This gene encodes an atypical inhibitor of the small G protein RhoA. Inhibition of RhoA activity by the encoded protein mediates myoblast fusion and polarization of T cells and neutrophils. The encode...

Pfam Domains

PL48aa 16–364UCSCFilopodia upregulated, FAM65

Gene Aliases

HGNC Name

RHO family interacting cell polarization regulator 2

HGNC Previous Symbols

C6orf32; FAM65B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001286445.3
p.D900Y
c.2698G>T
Surrounding Variants
1 paper
NM_001286445.3
p.Q919H
c.2757G>T
1 paper
NM_001286445.3
p.Q919H
c.2757G>C
1 paper
NM_001286445.3
p.V940V
c.2820G>C
1 paper
NM_014722.5
p.G895S
c.2683G>A
1 paper
NM_001286445.3
p.E849*
c.2545G>T
1 paper
NM_001286445.3
p.A848D
c.2543C>A
1 paper
NM_001286445.3
p.R847Q
c.2540G>A
1 paper
NM_001286445.3
p.K956_A957Splc
c.2869-2978C>T
1 paper
NM_001286445.3
p.M814T
c.2441T>C
1 paper
NM_001286445.3
p.A782Splc
c.2345-4C>T
1 paper
NM_001286445.3
p.L965L
c.2895A>G
1 paper
NM_001286445.3
p.A766T
c.2296G>A
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