Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.A79delFs

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
3 papers
NM_006915.3
p.A79delFs
c.235delG
Surrounding Variants
1 paper
NM_006915.3
p.A79fs
c.235_236fs
2 papers
NM_006915.3
p.A79fs
c.235_236fs
1 paper
NM_006915.3
p.A79V
c.236C>T
1 paper
NM_006915.3
p.T80A
c.238A>G
1 paper
NM_006915.3
p.D76N
c.226G>A
1 paper
NM_006915.3
p.D76H
c.226G>C
1 paper
NM_006915.3
p.D76Y
c.226G>T
1 paper
NM_006915.3
p.F75fs
c.223_224fs
1 paper
NM_006915.3
p.I74delFs
c.221delT
2 papers
NM_006915.3
p.I83T
c.248T>C
2 papers
NM_006915.3
p.Y73fs
c.217_218fs
3 papers
NM_006915.3
p.Y73delFs
c.217delT
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