Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.F102fs

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.F102fs
c.304_305fs
Surrounding Variants
1 paper
NM_006915.3
p.F102fs
c.304_305fs
1 paper
NM_006915.3
p.R103fs
c.307_308fs
1 paper
NM_006915.3
p.F101fs
c.301_302fs
2 papers
NM_006915.3
p.R103Q
c.308G>A
3 papers
NM_006915.3
p.F101_F102insFs
c.303_304insT
1 paper
NM_006915.3
p.F102delFs
c.305delT
1 paper
NM_006915.3
p.V100E
c.299T>A
1 paper
NM_006915.3
p.V100insFs
c.299dupT
1 paper
NM_006915.3
p.V100_F101delFs
c.300_301delGT
1 paper
NM_006915.3
p.S99I
c.296G>T
1 paper
NM_006915.3
p.C105Y
c.314G>A
1 paper
NM_006915.3
p.C105_R106delFs
c.315_318del4
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