Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.V119L

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.V119L
c.355G>T
Surrounding Variants
1 paper
NM_006915.3
p.V119_R123del0
c.357_368del12
45 papers
NM_006915.3
p.R118H
c.353G>A
6 papers
NM_006915.3
p.R118L
c.353G>T
2 papers
NM_006915.3
p.R118G
c.352C>G
68 papers
NM_006915.3
p.R120*
c.358C>T
15 papers
NM_006915.3
p.R118C
c.352C>T
1 paper
NM_006915.3
p.R120_D121delFs
c.359_363del5
1 paper
NM_006915.3
p.R120P
c.359G>C
1 paper
NM_006915.3
p.R120L
c.359G>T
1 paper
NM_006915.3
p.F117fs
c.349_350fs
1 paper
NM_006915.3
p.Q116_F117insFs
c.348_349insT
1 paper
NM_006915.3
p.C122delFs
c.364delT
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