Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.D107fs

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.D107fs
c.319_320fs
Surrounding Variants
1 paper
NM_006915.3
p.C108_C110del0
c.323_328del6
2 papers
NM_006915.3
p.C108R
c.322T>C
8 papers
NM_006915.3
p.C108G
c.322T>G
4 papers
NM_006915.3
p.C105W
c.315C>G
1 paper
NM_006915.3
p.R106_D107delFs
c.318_319delAG
1 paper
NM_006915.3
p.R106_T111del6
c.316_332del18
1 paper
NM_006915.3
p.C108Y
c.323G>A
1 paper
NM_006915.3
p.C105Y
c.314G>A
1 paper
NM_006915.3
p.C105_R106delFs
c.315_318del4
2 papers
NM_006915.3
p.C110R
c.328T>C
1 paper
NM_006915.3
p.C110fs
c.328_329fs
2 papers
NM_006915.3
p.R103Q
c.308G>A
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