Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.A162_L164delFs

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.A162_L164delFs
c.486_490del5
Surrounding Variants
1 paper
NM_006915.3
p.A162insFs
c.484_485ins7
1 paper
NM_006915.3
p.D161fs
c.481_482fs
1 paper
NM_006915.3
p.G163fs
c.487_488fs
1 paper
NM_006915.3
p.G163E
c.488G>A
1 paper
NM_006915.3
p.G163V
c.488G>T
3 papers
NM_006915.3
p.F159_K160insAA
c.475_479ins6
4 papers
NM_006915.3
p.Q158P
c.473A>C
1 paper
NM_006915.3
p.I166_F167delFs
c.498_499delCT
1 paper
NM_006915.3
p.Q158delFs
c.472delC
1 paper
NM_006915.3
p.F157fs
c.469_470fs
1 paper
NM_006915.3
p.L155_A156insFs
c.465_468dup4
1 paper
NM_006915.3
p.N169delFs
c.507delT
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