Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.V83D

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.V83D
c.248T>A
Surrounding Variants
1 paper
NM_000554.6
p.V83A
c.248T>C
1 paper
NM_000554.6
p.Q84E
c.250C>G
1 paper
NM_000554.6
p.Q84*
c.250C>T
1 paper
NM_000554.6
p.R82K
c.245G>A
1 paper
NM_000554.6
p.R82fs
c.244_245fs
2 papers
NM_000554.6
p.Q84_V85Splc
c.252+1G>A
36 papers
NM_000554.6
p.E80A
c.239A>C
11 papers
NM_000554.6
p.E80G
c.239A>G
1 paper
NM_000554.6
p.E80V
c.239A>T
14 papers
NM_000554.6
p.E80K
c.238G>A
4 papers
NM_000554.6
p.E80Q
c.238G>C
1 paper
NM_000554.6
p.P79insFs
c.236_237insG
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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."