Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.Q99*

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
3 papers
NM_000554.6
p.Q99*
c.295C>T
Surrounding Variants
1 paper
NM_000554.6
p.R98P
c.293G>C
1 paper
NM_000554.6
p.R98L
c.293G>T
7 papers
NM_000554.6
p.R98*
c.292C>T
1 paper
NM_000554.6
p.R95delFs
c.285delG
1 paper
NM_000554.6
p.R95fs
c.283_284fs
1 paper
NM_000554.6
p.C94Y
c.281G>A
2 papers
NM_000554.6
p.Q104*
c.310C>T
1 paper
NM_000554.6
p.Q106_Q111del6
c.316_332del18
4 papers
NM_000554.6
p.Q105*
c.313C>T
1 paper
NM_000554.6
p.Q106K
c.316C>A
2 papers
NM_000554.6
p.Q106*
c.316C>T
4 papers
NM_000554.6
p.A92T
c.274G>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."