Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.T87I

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
3 papers
NM_006915.3
p.T87I
c.260C>T
Surrounding Variants
1 paper
NM_006915.3
p.N88_I91delFs
c.264_271del8
2 papers
NM_006915.3
p.C86*
c.258T>A
1 paper
NM_006915.3
p.C86W
c.258T>G
2 papers
NM_006915.3
p.T87_I90del0
c.260_268del9
14 papers
NM_006915.3
p.C86Y
c.257G>A
2 papers
NM_006915.3
p.C86R
c.256T>C
1 paper
NM_006915.3
p.C89Y
c.266G>A
1 paper
NM_006915.3
p.I91fs
c.271_272fs
2 papers
NM_006915.3
p.I83T
c.248T>C
1 paper
NM_006915.3
p.I91Fs
c.272_273delinsCFs
1 paper
NM_006915.3
p.F92_L93Fs
c.276_277delinsAFs
1 paper
NM_006915.3
p.T80A
c.238A>G
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."