Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.A189fs

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
2 papers
NM_000554.6
p.A189fs
c.565_566fs
Surrounding Variants
1 paper
NM_000554.6
p.A189T
c.565G>A
2 papers
NM_000554.6
p.P190insFs
c.570dupC
5 papers
NM_000554.6
p.P190delFs
c.570delC
5 papers
NM_000554.6
p.P190_P197delFs
c.568_590del23
4 papers
NM_000554.6
p.P190fs
c.568_569fs
2 papers
NM_000554.6
p.S188insFs
c.564dupC
1 paper
NM_000554.6
p.T187T
c.561C>T
4 papers
NM_000554.6
p.T187I
c.560C>T
10 papers
NM_000554.6
p.Y191delFs
c.571delT
3 papers
NM_000554.6
p.T187fs
c.559_560fs
1 paper
NM_000554.6
p.Y191fs
c.571_572fs
7 papers
NM_000554.6
p.Y191fs
c.571_572fs
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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."