Varaico: Literature-Extracted Genetic Variants

Gene:RIPOR2
Variant:p.S672*

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.S672*
c.2015C>G
Surrounding Variants
1 paper
NM_001286445.3
p.S672*
c.2015C>A
1 paper
NM_001286445.3
p.S680N
c.2039G>A
1 paper
NM_001286445.3
p.A695V
c.2084C>T
1 paper
NM_001286445.3
p.G701A
c.2102G>C
2 papers
NM_001286445.3
p.L713L
c.2137C>T
1 paper
NM_001286445.3
p.G716C
c.2146G>T
1 paper
NM_001286445.3
p.E718D
c.2154G>T
1 paper
NM_001286445.3
p.E718D
c.2154G>C
1 paper
NM_001286445.3
p.I617S
c.1850T>G
1 paper
NM_001286445.3
p.F604L
c.1810T>C
1 paper
NM_001286445.3
p.K602E
c.1804A>G
2 papers
NM_001286445.3
p.L583L
c.1747T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."