Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.K230_S231delFs

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.K230_S231delFs
c.688_692del5
Surrounding Variants
1 paper
NM_006915.3
p.Q229fs
c.685_686fs
2 papers
NM_006915.3
p.Q229*
c.685C>T
1 paper
NM_006915.3
p.Q229_K230delFs
c.687_688delGA
2 papers
NM_006915.3
p.Q229fs
c.685_686fs
1 paper
NM_006915.3
p.K230fs
c.688_689fs
2 papers
NM_006915.3
p.K230fs
c.688_689fs
1 paper
NM_006915.3
p.K230_S231delFs
c.689_692del4
2 papers
NM_006915.3
p.Q229_S231delFs
c.685_691del7
1 paper
NM_006915.3
p.Q227*
c.679C>T
1 paper
NM_006915.3
p.R225insFs
c.674_675insC
1 paper
NM_006915.3
p.R225fs
c.673_674fs
1 paper
NM_006915.3
p.G226delFs
c.677delG
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