Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.R176W

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.R176W
c.526C>T
Surrounding Variants
3 papers
NM_000554.6
p.A177delFs
c.529delG
1 paper
NM_000554.6
p.Q175*
c.523C>T
1 paper
NM_000554.6
p.Q175fs
c.523_524fs
2 papers
NM_000554.6
p.A177fs
c.529_530fs
1 paper
NM_000554.6
p.A174V
c.521C>T
1 paper
NM_000554.6
p.G178delFs
c.534delG
2 papers
NM_000554.6
p.A174fs
c.520_521fs
1 paper
NM_000554.6
p.A174_Q175insFs
c.522_523dupGC
3 papers
NM_000554.6
p.A174delFs
c.520delG
1 paper
NM_000554.6
p.L179fs
c.535_536fs
2 papers
NM_000554.6
p.V180insFs
c.538dupG
1 paper
NM_000554.6
p.P172fs
c.514_515fs
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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."