Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.L253R

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
13 papers
NM_006915.3
p.L253R
c.758T>G
Surrounding Variants
2 papers
NM_006915.3
p.L253P
c.758T>C
1 paper
NM_006915.3
p.L253fs
c.757_758fs
1 paper
NM_006915.3
p.L253L
c.757C>T
1 paper
NM_006915.3
p.L253delFs
c.758delT
1 paper
NM_006915.3
p.L253fs
c.757_758fs
1 paper
NM_006915.3
p.L253_I254delFs
c.758_761del4
1 paper
NM_006915.3
p.R251K
c.752G>A
3 papers
NM_006915.3
p.R251G
c.751A>G
1 paper
NM_006915.3
p.E256del1
c.766_767delGAG
4 papers
NM_006915.3
p.E256_M257Splc
c.768+1G>A
1 paper
NM_006915.3
p.E256_M257Splc
c.768+1G>C
1 paper
NM_006915.3
p.E256_M257Splc
c.768+2T>C
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