Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.L291delFs

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.L291delFs
c.873delT
Surrounding Variants
1 paper
NM_006915.3
p.L291insFs
c.872_873insA
1 paper
NM_006915.3
p.P290L
c.869C>T
1 paper
NM_006915.3
p.L292_N293insA
c.874_878ins3
1 paper
NM_006915.3
p.K294delFs
c.882delA
1 paper
NM_006915.3
p.D287fs
c.859_860fs
1 paper
NM_006915.3
p.P286delFs
c.858delT
1 paper
NM_006915.3
p.A285insFs
c.854_855insG
1 paper
NM_006915.3
p.A285T
c.853G>A
1 paper
NM_006915.3
p.A285fs
c.853_854fs
1 paper
NM_006915.3
p.E283G
c.848A>G
1 paper
NM_006915.3
p.K284delFs
c.852delA
1 paper
NM_006915.3
p.R282R
c.846G>C
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