Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.A113T

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.A113T
c.337G>A
Surrounding Variants
1 paper
NM_006915.3
p.A113delFs
c.339delC
3 papers
NM_006915.3
p.A113D
c.338C>A
1 paper
NM_006915.3
p.A113_C114insFs
c.339_340insG
1 paper
NM_006915.3
p.C114R
c.340T>C
1 paper
NM_006915.3
p.L112delFs
c.334delT
4 papers
NM_006915.3
p.C114Y
c.341G>A
1 paper
NM_006915.3
p.T111_A113delFs
c.332_339del8
2 papers
NM_006915.3
p.C110R
c.328T>C
1 paper
NM_006915.3
p.C110fs
c.328_329fs
1 paper
NM_006915.3
p.Q116L
c.347A>T
1 paper
NM_006915.3
p.Q116_F117insFs
c.348_349insT
1 paper
NM_006915.3
p.F117fs
c.349_350fs
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."