Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.P149fs

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.P149fs
c.445_446fs
Surrounding Variants
1 paper
NM_000554.6
p.P149fs
c.445_446fs
2 papers
NM_000554.6
p.S150delFs
c.448_449delTC
4 papers
NM_000554.6
p.P149insFs
c.447dupC
1 paper
NM_000554.6
p.G148delFs
c.444delC
4 papers
NM_000554.6
p.G148fs
c.442_443fs
5 papers
NM_000554.6
p.S150fs
c.448_449fs
5 papers
NM_000554.6
p.S150*
c.449C>A
6 papers
NM_000554.6
p.S150*
c.449C>G
5 papers
NM_000554.6
p.G148delFs
c.442delG
1 paper
NM_000554.6
p.P147H
c.440C>A
1 paper
NM_000554.6
p.P147_T155delFs
c.441_463del23
1 paper
NM_000554.6
p.G151C
c.451G>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."