Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.W276*

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.W276*
c.828G>A
Surrounding Variants
2 papers
NM_000554.6
p.W276*
c.827G>A
1 paper
NM_000554.6
p.G274A
c.821G>C
5 papers
NM_000554.6
p.G274fs
c.820_821fs
2 papers
NM_000554.6
p.T273M
c.818C>T
4 papers
NM_000554.6
p.G274delFs
c.821delG
1 paper
NM_000554.6
p.Y280H
c.838T>C
1 paper
NM_000554.6
p.Y280F
c.839A>T
4 papers
NM_000554.6
p.T273fs
c.817_818fs
5 papers
NM_000554.6
p.P272_T273Fs
c.816_818delinsAAFs
1 paper
NM_000554.6
p.P272delFs
c.816delC
1 paper
NM_000554.6
p.P282A
c.844C>G
1 paper
NM_000554.6
p.M283delFs
c.848delT
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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."