Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.E183*

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.E183*
c.547G>T
Surrounding Variants
1 paper
NM_006915.3
p.S181fs
c.541_542fs
1 paper
NM_006915.3
p.S181fs
c.541_542fs
1 paper
NM_006915.3
p.S181delFs
c.542_543delCA
1 paper
NM_006915.3
p.W186_L189delFs
c.557_566del10
1 paper
NM_006915.3
p.W186fs
c.556_557fs
2 papers
NM_006915.3
p.W186*
c.557G>A
1 paper
NM_006915.3
p.W186L
c.557G>T
1 paper
NM_006915.3
p.V180_S181delFs
c.540_541delGT
2 papers
NM_006915.3
p.W186*
c.558G>A
1 paper
NM_006915.3
p.S187fs
c.559_560fs
1 paper
NM_006915.3
p.S187delFs
c.560_561delGC
3 papers
NM_006915.3
p.P179S
c.535C>T
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