Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.C3S

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
8 papers
NM_006915.3
p.C3S
c.8G>C
Surrounding Variants
15 papers
NM_006915.3
p.F5_S6del1
c.14_16delTCT
8 papers
NM_006915.3
p.C3S
c.7T>A
1 paper
NM_006915.3
p.C3_K7del5
c.7_20del15
6 papers
NM_006915.3
p.G2A
c.5G>C
5 papers
NM_006915.3
p.G2V
c.5G>T
1 paper
NM_006915.3
p.F4_S6delFs
c.12_18del7
1 paper
NM_006915.3
p.G2C
c.4G>T
1 paper
NM_006915.3
p.M1I
c.3G>A
1 paper
NM_006915.3
p.M1I
c.3G>C
1 paper
NM_006915.3
p.M1_G2insFs
c.3_4insT
3 papers
NM_006915.3
p.M1T
c.2T>C
6 papers
NM_006915.3
p.S6del1
c.16_17delTCC
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