Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.E42D

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.E42D
c.126G>T
Surrounding Variants
1 paper
NM_000554.6
p.E42D
c.126G>C
3 papers
NM_000554.6
p.E42A
c.125A>C
1 paper
NM_000554.6
p.E42G
c.125A>G
11 papers
NM_000554.6
p.R43C
c.127C>T
13 papers
NM_000554.6
p.R43H
c.128G>A
10 papers
NM_000554.6
p.E42K
c.124G>A
1 paper
NM_000554.6
p.E42Q
c.124G>C
1 paper
NM_000554.6
p.E42_R43insFs
c.125_128dup4
1 paper
NM_000554.6
p.T44insFs
c.131_132insC
1 paper
NM_000554.6
p.T44fs
c.130_131fs
40 papers
NM_000554.6
p.R41Q
c.122G>A
3 papers
NM_000554.6
p.R41P
c.122G>C
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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."