Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.S43G

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.S43G
c.127A>G
Surrounding Variants
1 paper
NM_006915.3
p.S43delFs
c.128delG
2 papers
NM_006915.3
p.S43fs
c.127_128fs
1 paper
NM_006915.3
p.F42L
c.126C>A
1 paper
NM_006915.3
p.F42L
c.126C>G
3 papers
NM_006915.3
p.F42F
c.126C>T
2 papers
NM_006915.3
p.S43_D47delFs
c.128_140del13
1 paper
NM_006915.3
p.F42L
c.124T>C
1 paper
NM_006915.3
p.M41T
c.122T>C
1 paper
NM_006915.3
p.M41V
c.121A>G
1 paper
NM_006915.3
p.L45L
c.133C>T
1 paper
NM_006915.3
p.D47N
c.139G>A
1 paper
NM_006915.3
p.P37_K38insFs
c.111_112insC
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