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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RIPOR2

Variant:p.I1003V

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr6:24809753 T>C

NM_001286445.3

p.I1003V

c.3007A>G

exact variant not in gnomAD42 overlapping SVs

Surrounding Variants

1 paper

chr6:24809760 A>G

NM_001286445.3

p.T1000T

c.3000T>C

exact variant not in gnomAD42 overlapping SVs

1 paper

chr6:24809806 G>C

NM_001286445.3

p.A985G

c.2954C>G

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=1, hom=0)42 overlapping SVs

1 paper

chr6:24806391 T>G

NM_001286445.3

p.E1042D

c.3126A>C

exact variant not in gnomAD41 overlapping SVs

1 paper

chr6:24818599 T>C

NM_001286445.3

p.L965L

c.2895A>G

Exome: 1.3% (AC=17983, hom=277)Genome: 3.2% (AC=4860, hom=172)41 overlapping SVs

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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."