Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.E14delFs

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.E14delFs
c.40delG
Surrounding Variants
8 papers
NM_006915.3
p.E14_R16del3
c.40_47del9
1 paper
NM_006915.3
p.E14fs
c.40_41fs
2 papers
NM_006915.3
p.D12delFs
c.36delC
2 papers
NM_006915.3
p.S15delFs
c.43delT
1 paper
NM_006915.3
p.A11A
c.33T>C
2 papers
NM_006915.3
p.S15fs
c.43_44fs
1 paper
NM_006915.3
p.D12_E18del7
c.34_53del21
1 paper
NM_006915.3
p.S15W
c.44C>G
1 paper
NM_006915.3
p.S15L
c.44C>T
2 papers
NM_006915.3
p.R16_E18del3
c.46_53del9
1 paper
NM_006915.3
p.A11T
c.31G>A
1 paper
NM_006915.3
p.K10K
c.30G>A
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