Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.Q266_T267delFs

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
2 papers
NM_006915.3
p.Q266_T267delFs
c.798_801del4
Surrounding Variants
2 papers
NM_006915.3
p.Q266fs
c.796_797fs
1 paper
NM_006915.3
p.Q266_T267delFs
c.797_801del5
2 papers
NM_006915.3
p.Q266P
c.797A>C
1 paper
NM_006915.3
p.V265fs
c.793_794fs
1 paper
NM_006915.3
p.V265delFs
c.793delG
2 papers
NM_006915.3
p.T267fs
c.799_800fs
1 paper
NM_006915.3
p.K268insFs
c.803dupA
3 papers
NM_006915.3
p.T267_K268delFs
c.801_804del4
1 paper
NM_006915.3
p.T267_V270delFs
c.801_808del8
1 paper
NM_006915.3
p.L264_S271del8
c.790_812del24
1 paper
NM_006915.3
p.K268N
c.804G>T
1 paper
NM_006915.3
p.E269fs
c.805_806fs
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