Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.Q61E

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.Q61E
c.181C>G
Surrounding Variants
1 paper
NM_006915.3
p.Q61K
c.181C>A
3 papers
NM_006915.3
p.Q61*
c.181C>T
1 paper
NM_006915.3
p.F62L
c.186T>A
1 paper
NM_006915.3
p.Q65*
c.193C>T
1 paper
NM_006915.3
p.T56T
c.168G>A
1 paper
NM_006915.3
p.D66N
c.196G>A
5 papers
NM_006915.3
p.C67Y
c.200G>A
3 papers
NM_006915.3
p.P54fs
c.160_161fs
1 paper
NM_006915.3
p.E68delFs
c.204delG
3 papers
NM_006915.3
p.L53_P54insFs
c.159_160insAA
1 paper
NM_006915.3
p.N69fs
c.205_206fs
1 paper
NM_006915.3
p.C70delFs
c.209delG
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