Varaico: Literature-Extracted Genetic Variants

Gene:RIPOR2
Variant:p.Q501Q

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.Q501Q
c.1503G>A
Surrounding Variants
1 paper
NM_014722.5
p.R521*
c.1561C>T
1 paper
NM_001286445.3
p.L521L
c.1561C>T
1 paper
NM_001286445.3
p.E525G
c.1574A>G
1 paper
NM_001286445.3
p.E529Q
c.1585G>C
1 paper
NM_001286445.3
p.G472G
c.1416C>T
1 paper
NM_001286445.3
p.D536G
c.1607A>G
1 paper
NM_001286445.3
p.D536E
c.1608C>G
1 paper
NM_001286445.3
p.D536E
c.1608C>A
1 paper
NM_001286445.3
p.S464F
c.1391C>T
4 papers
NM_014722.5
p.Q566_K569del0
c.1696_1707del12
NM_001286445.3
p.Q545_K548del0
c.1633_1644del12
1 paper
NM_014722.5
p.L584_G587del4
c.1750_1760del12
1 paper
NM_014722.5
p.S593_C596del0
c.1777_1788del12
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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."