Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.G231fs

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
3 papers
NM_000554.6
p.G231fs
c.691_692fs
Surrounding Variants
1 paper
NM_000554.6
p.G231fs
c.691_692fs
4 papers
NM_000554.6
p.P232delFs
c.695delC
2 papers
NM_000554.6
p.P232fs
c.694_695fs
1 paper
NM_000554.6
p.G230R
c.688G>A
1 paper
NM_000554.6
p.G230R
c.688G>C
3 papers
NM_000554.6
p.G231delFs
c.692delG
1 paper
NM_000554.6
p.A233_V242del10
c.697_725del30
4 papers
NM_000554.6
p.Q228H
c.684G>C
4 papers
NM_000554.6
p.Q228H
c.684G>T
7 papers
NM_000554.6
p.Q228*
c.682C>T
1 paper
NM_000554.6
p.L234F
c.700C>T
2 papers
NM_000554.6
p.L237insFs
c.709dupC
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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."