Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.C130*

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.C130*
c.390T>A
Surrounding Variants
1 paper
NM_006915.3
p.C131insFs
c.391dupT
1 paper
NM_006915.3
p.C131G
c.391T>G
1 paper
NM_006915.3
p.C131fs
c.391_392fs
1 paper
NM_006915.3
p.L129fs
c.385_386fs
1 paper
NM_006915.3
p.L129fs
c.385_386fs
1 paper
NM_006915.3
p.F128fs
c.382_383fs
1 paper
NM_006915.3
p.F128_C131delFs
c.383_392del10
2 papers
NM_006915.3
p.F128delFs
c.382_383delTT
1 paper
NM_006915.3
p.F128_L129delFs
c.383_386del4
1 paper
NM_006915.3
p.Q134fs
c.400_401fs
5 papers
NM_006915.3
p.Q134*
c.400C>T
1 paper
NM_006915.3
p.F128_S140del13
c.382_419del39
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