Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.E20K

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.E20K
c.58G>A
Surrounding Variants
1 paper
NM_006915.3
p.E20*
c.58G>T
1 paper
NM_006915.3
p.N19fs
c.55_56fs
1 paper
NM_006915.3
p.E18delFs
c.54delG
2 papers
NM_006915.3
p.E18*
c.52G>T
2 papers
NM_006915.3
p.P17S
c.49C>T
1 paper
NM_006915.3
p.R23R
c.69G>A
1 paper
NM_006915.3
p.S15W
c.44C>G
1 paper
NM_006915.3
p.S15L
c.44C>T
2 papers
NM_006915.3
p.R16_E18del3
c.46_53del9
2 papers
NM_006915.3
p.S15fs
c.43_44fs
2 papers
NM_006915.3
p.S15delFs
c.43delT
1 paper
NM_006915.3
p.Q26insFs
c.77_78insCA
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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."