Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.Y142*

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.Y142*
c.426C>G
Surrounding Variants
1 paper
NM_000554.6
p.Y142*
c.426C>A
21 papers
NM_000554.6
p.Y142C
c.425A>G
3 papers
NM_000554.6
p.S143fs
c.427_428fs
3 papers
NM_000554.6
p.S143delFs
c.429delT
1 paper
NM_000554.6
p.P145insFs
c.434dupC
3 papers
NM_000554.6
p.S143_P144Fs
c.429_430delinsAFs
4 papers
NM_000554.6
p.P145delFs
c.434delC
2 papers
NM_000554.6
p.S141F
c.422C>T
1 paper
NM_000554.6
p.L146_S150delFs
c.437_449del13
1 paper
NM_000554.6
p.S141P
c.421T>C
2 papers
NM_000554.6
p.S141fs
c.421_422fs
4 papers
NM_000554.6
p.S141delFs
c.421delT
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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."