Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.A56T

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
14 papers
NM_000554.6
p.A56T
c.166G>A
Surrounding Variants
1 paper
NM_000554.6
p.A56A
c.168A>T
1 paper
NM_000554.6
p.L57fs
c.169_170fs
1 paper
NM_000554.6
p.E55insFs
c.164dupA
2 papers
NM_000554.6
p.L54R
c.161T>G
1 paper
NM_000554.6
p.E53_L54ins1
c.159_160insTAA
1 paper
NM_000554.6
p.E53G
c.158A>G
13 papers
NM_000554.6
p.E53V
c.158A>T
1 paper
NM_000554.6
p.E53delFs
c.159delG
1 paper
NM_000554.6
p.E53K
c.157G>A
1 paper
NM_000554.6
p.E53fs
c.157_158fs
2 papers
NM_000554.6
p.E52*
c.154G>T
1 paper
NM_000554.6
p.Q62*
c.184C>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."