Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.D65H

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
10 papers
NM_000554.6
p.D65H
c.193G>C
Surrounding Variants
1 paper
NM_000554.6
p.P64S
c.190C>T
11 papers
NM_000554.6
p.V66I
c.196G>A
1 paper
NM_000554.6
p.Y67F
c.200A>T
1 paper
NM_000554.6
p.Q62*
c.184C>T
1 paper
NM_000554.6
p.A68V
c.203C>T
6 papers
NM_000554.6
p.R69C
c.205C>T
6 papers
NM_000554.6
p.R69H
c.206G>A
2 papers
NM_000554.6
p.E71K
c.211G>A
1 paper
NM_000554.6
p.E71*
c.211G>T
1 paper
NM_000554.6
p.V72V
c.216G>A
1 paper
NM_000554.6
p.L57fs
c.169_170fs
1 paper
NM_000554.6
p.A56A
c.168A>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."