Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.P165P

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.P165P
c.495A>C
Surrounding Variants
3 papers
NM_000554.6
p.P165Fs
c.495delinsTTTFs
2 papers
NM_000554.6
p.A166fs
c.496_497fs
1 paper
NM_000554.6
p.A166_S169del0
c.498_506del9
2 papers
NM_000554.6
p.S167*
c.500C>A
2 papers
NM_000554.6
p.S167*
c.500C>G
4 papers
NM_000554.6
p.E168delFs
c.503_504delAG
5 papers
NM_000554.6
p.E168delFs
c.502delG
1 paper
NM_000554.6
p.E168K
c.502G>A
1 paper
NM_000554.6
p.E168fs
c.502_503fs
4 papers
NM_000554.6
p.E168fs
c.502_503fs
4 papers
NM_000554.6
p.P170delFs
c.509delC
1 paper
NM_000554.6
p.P170T
c.508C>A
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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."