Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.S235*

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.S235*
c.704C>G
Surrounding Variants
1 paper
NM_006915.3
p.S235*
c.704C>A
1 paper
NM_006915.3
p.C236W
c.708C>G
1 paper
NM_006915.3
p.E234*
c.700G>T
1 paper
NM_006915.3
p.L237*
c.710T>A
1 paper
NM_006915.3
p.D233N
c.697G>A
4 papers
NM_006915.3
p.V238E
c.713T>A
1 paper
NM_006915.3
p.V239E
c.716T>A
1 paper
NM_006915.3
p.L240delFs
c.718delT
1 paper
NM_006915.3
p.L240fs
c.718_719fs
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
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