Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.V199V

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.V199V
c.597T>C
Surrounding Variants
1 paper
NM_006915.3
p.P200delFs
c.599delC
1 paper
NM_006915.3
p.I201L
c.601A>C
1 paper
NM_006915.3
p.I201L
c.601A>T
1 paper
NM_006915.3
p.D197A
c.590A>C
1 paper
NM_006915.3
p.Q196*
c.586C>T
1 paper
NM_006915.3
p.T204fs
c.610_611fs
1 paper
NM_006915.3
p.T204_R211delFs
c.611_632del22
1 paper
NM_006915.3
p.E205*
c.613G>T
1 paper
NM_006915.3
p.V195insFs
c.583dupG
1 paper
NM_006915.3
p.P190_E191insFs
c.570_571ins11
2 papers
NM_006915.3
p.P190Fs
c.568_569delinsGFs
2 papers
NM_006915.3
p.P190fs
c.568_569fs
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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."