Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.Q106_Q111del6

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.Q106_Q111del6
c.316_332del18
Surrounding Variants
4 papers
NM_000554.6
p.Q105*
c.313C>T
2 papers
NM_000554.6
p.Q104*
c.310C>T
1 paper
NM_000554.6
p.Q106K
c.316C>A
2 papers
NM_000554.6
p.Q106*
c.316C>T
2 papers
NM_000554.6
p.G110delFs
c.329delG
1 paper
NM_000554.6
p.G109E
c.326G>A
1 paper
NM_000554.6
p.G110R
c.328G>C
1 paper
NM_000554.6
p.G110fs
c.328_329fs
3 papers
NM_000554.6
p.Q99*
c.295C>T
1 paper
NM_000554.6
p.Q111*
c.331C>T
1 paper
NM_000554.6
p.R98P
c.293G>C
1 paper
NM_000554.6
p.R98L
c.293G>T
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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."