Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.T47I

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.T47I
c.140C>T
Surrounding Variants
1 paper
NM_000554.6
p.R48W
c.142C>T
1 paper
NM_000554.6
p.R48Q
c.143G>A
2 papers
NM_000554.6
p.T45A
c.133A>G
2 papers
NM_000554.6
p.T44N
c.131C>A
1 paper
NM_000554.6
p.T44insFs
c.131_132insC
1 paper
NM_000554.6
p.T44fs
c.130_131fs
13 papers
NM_000554.6
p.R43H
c.128G>A
11 papers
NM_000554.6
p.R43C
c.127C>T
1 paper
NM_000554.6
p.E42D
c.126G>C
2 papers
NM_000554.6
p.E52*
c.154G>T
1 paper
NM_000554.6
p.E42D
c.126G>T
3 papers
NM_000554.6
p.E42A
c.125A>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."