Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.S271Y

RP2

369 papers

RefSeq Summary

The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubuli...

Pfam Domains

TBCCaa 59–177UCSCTubulin binding cofactor C

Gene Aliases

HGNC Name

RP2 activator of ARL3 GTPase

HGNC Alias Symbols

TBCCD2; NME10; NM23-H10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006915.3
p.S271Y
c.812C>A
Surrounding Variants
1 paper
NM_006915.3
p.S271A
c.811T>G
1 paper
NM_006915.3
p.S271fs
c.811_812fs
1 paper
NM_006915.3
p.M272V
c.814A>G
1 paper
NM_006915.3
p.V270V
c.810G>T
1 paper
NM_006915.3
p.V270_S271delFs
c.810_811delGT
1 paper
NM_006915.3
p.E269fs
c.805_806fs
2 papers
NM_006915.3
p.E269fs
c.805_806fs
1 paper
NM_006915.3
p.K268N
c.804G>T
1 paper
NM_006915.3
p.D276delFs
c.826delG
1 paper
NM_006915.3
p.K268insFs
c.803dupA
3 papers
NM_006915.3
p.T267_K268delFs
c.801_804del4
1 paper
NM_006915.3
p.T267_V270delFs
c.801_808del8
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."