Varaico: Literature-Extracted Genetic Variants

Gene:CRX

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
1–12 of 449 variants
59 papers
NM_000554.6
p.R90W
c.268C>T
58 papers
NM_000554.6
p.R41W
c.121C>T
40 papers
NM_000554.6
p.R41Q
c.122G>A
36 papers
NM_000554.6
p.E80A
c.239A>C
26 papers
NM_000554.6
p.K88N
c.264G>T
24 papers
NM_000554.6
p.K88N
c.264G>C
21 papers
NM_000554.6
p.Y142C
c.425A>G
21 papers
NM_000554.6
p.A158T
c.472G>A
19 papers
NM_000554.6
p.V242M
c.724G>A
15 papers
NM_000554.6
p.R40W
c.118C>T
14 papers
NM_000554.6
p.A56T
c.166G>A
14 papers
NM_000554.6
p.E80K
c.238G>A
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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."