Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.Y258*

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
6 papers
NM_000554.6
p.Y258*
c.774T>G
Surrounding Variants
6 papers
NM_000554.6
p.Y258*
c.774T>A
4 papers
NM_000554.6
p.Q256H
c.768G>T
1 paper
NM_000554.6
p.S262_T275del14
c.784_824del42
8 papers
NM_000554.6
p.Q256*
c.766C>T
1 paper
NM_000554.6
p.S262delFs
c.785delG
1 paper
NM_000554.6
p.S262fs
c.784_785fs
1 paper
NM_000554.6
p.G255fs
c.763_764fs
5 papers
NM_000554.6
p.P263delFs
c.789delC
2 papers
NM_000554.6
p.G255fs
c.763_764fs
1 paper
NM_000554.6
p.G255delFs
c.763delG
3 papers
NM_000554.6
p.P263_V264delFs
c.787_790del4
1 paper
NM_000554.6
p.P263fs
c.787_788fs
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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."