Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.R90W

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
59 papers
NM_000554.6
p.R90W
c.268C>T
Surrounding Variants
1 paper
NM_000554.6
p.R90Q
c.269G>A
1 paper
NM_000554.6
p.R90P
c.269G>C
1 paper
NM_000554.6
p.R91W
c.271A>T
7 papers
NM_000554.6
p.R91K
c.272G>A
24 papers
NM_000554.6
p.K88N
c.264G>C
1 paper
NM_000554.6
p.K88_N89insFs
c.264_265insC
26 papers
NM_000554.6
p.K88N
c.264G>T
1 paper
NM_000554.6
p.K88T
c.263A>C
2 papers
NM_000554.6
p.K88R
c.263A>G
1 paper
NM_000554.6
p.K88M
c.263A>T
7 papers
NM_000554.6
p.K88Q
c.262A>C
4 papers
NM_000554.6
p.K88E
c.262A>G
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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."