Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.P37_K38insFs

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.P37_K38insFs
c.111_112insC
Surrounding Variants
1 paper
NM_006915.3
p.P37S
c.109C>T
1 paper
NM_006915.3
p.P37insFs
c.109dupC
1 paper
NM_006915.3
p.D36A
c.107A>C
1 paper
NM_006915.3
p.D36N
c.106G>A
1 paper
NM_006915.3
p.D36fs
c.106_107fs
1 paper
NM_006915.3
p.V35V
c.105T>A
1 paper
NM_006915.3
p.V35A
c.104T>C
2 papers
NM_006915.3
p.K34_V35Splc
c.103-2A>G
1 paper
NM_006915.3
p.M41V
c.121A>G
1 paper
NM_006915.3
p.M41T
c.122T>C
1 paper
NM_006915.3
p.F42L
c.124T>C
1 paper
NM_006915.3
p.F42L
c.126C>A
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