Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.D276fs

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.D276fs
c.826_827fs
Surrounding Variants
1 paper
NM_006915.3
p.D276delFs
c.826delG
1 paper
NM_006915.3
p.A277insFs
c.829dupG
1 paper
NM_006915.3
p.A277_Q278insFs
c.831_832dupTC
1 paper
NM_006915.3
p.A277fs
c.829_830fs
1 paper
NM_006915.3
p.Q278_F281delFs
c.832_841del10
2 papers
NM_006915.3
p.Q278*
c.832C>T
1 paper
NM_006915.3
p.M272V
c.814A>G
3 papers
NM_006915.3
p.F281_R282insFs
c.843_844insT
1 paper
NM_006915.3
p.V280G
c.839T>G
1 paper
NM_006915.3
p.S271Y
c.812C>A
1 paper
NM_006915.3
p.S271A
c.811T>G
1 paper
NM_006915.3
p.S271fs
c.811_812fs
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