Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.R41L

CRX

453 papers

RefSeq Summary

The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the mainte...

Pfam Domains

Homeodomainaa 40–96UCSCHomeodomain
TF_Otxaa 164–249UCSCOtx1 transcription factor

Gene Aliases

HGNC Name

cone-rod homeobox

HGNC Previous Symbol

CORD2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000554.6
p.R41L
c.122G>T
Surrounding Variants
40 papers
NM_000554.6
p.R41Q
c.122G>A
3 papers
NM_000554.6
p.R41P
c.122G>C
58 papers
NM_000554.6
p.R41W
c.121C>T
1 paper
NM_000554.6
p.E42_R43insFs
c.125_128dup4
10 papers
NM_000554.6
p.E42K
c.124G>A
1 paper
NM_000554.6
p.E42Q
c.124G>C
3 papers
NM_000554.6
p.E42A
c.125A>C
1 paper
NM_000554.6
p.E42G
c.125A>G
7 papers
NM_000554.6
p.R40Q
c.119G>A
1 paper
NM_000554.6
p.R40L
c.119G>T
1 paper
NM_000554.6
p.R41_R43del0
c.123_128del6
15 papers
NM_000554.6
p.R40W
c.118C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."