Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.S139delFs

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.S139delFs
c.416_417delCT
Surrounding Variants
1 paper
NM_006915.3
p.S139delFs
c.415delT
1 paper
NM_006915.3
p.E138A
c.413A>C
17 papers
NM_006915.3
p.E138G
c.413A>G
1 paper
NM_006915.3
p.S139P
c.415T>C
1 paper
NM_006915.3
p.E138fs
c.412_413fs
1 paper
NM_006915.3
p.S140_N142delFs
c.419_426del8
4 papers
NM_006915.3
p.S140F
c.419C>T
12 papers
NM_006915.3
p.I137del1
c.409_410delATT
1 paper
NM_006915.3
p.E138_F145delFs
c.412_434del23
1 paper
NM_006915.3
p.N142delFs
c.425delA
1 paper
NM_006915.3
p.N142fs
c.424_425fs
1 paper
NM_006915.3
p.P135R
c.404C>G
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