Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.L155_A156insFs

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.L155_A156insFs
c.465_468dup4
Surrounding Variants
4 papers
NM_006915.3
p.E154*
c.460G>T
1 paper
NM_006915.3
p.F157fs
c.469_470fs
1 paper
NM_006915.3
p.Q158delFs
c.472delC
1 paper
NM_006915.3
p.Y152C
c.455A>G
4 papers
NM_006915.3
p.Q158P
c.473A>C
3 papers
NM_006915.3
p.Y151*
c.453C>A
4 papers
NM_006915.3
p.Y151*
c.453C>G
2 papers
NM_006915.3
p.Y151delFs
c.453delC
1 paper
NM_006915.3
p.Y151fs
c.451_452fs
3 papers
NM_006915.3
p.F159_K160insAA
c.475_479ins6
7 papers
NM_006915.3
p.W150*
c.450G>A
7 papers
NM_006915.3
p.W150*
c.449G>A
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