Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.Y221*

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.Y221*
c.663C>G
Surrounding Variants
1 paper
NM_000554.6
p.Y221*
c.663C>A
1 paper
NM_000554.6
p.Y221H
c.661T>C
2 papers
NM_000554.6
p.Y221fs
c.661_662fs
1 paper
NM_000554.6
p.Y221delFs
c.661delT
1 paper
NM_000554.6
p.P220delFs
c.660delC
1 paper
NM_000554.6
p.P224_M225insC
c.670_674ins3
1 paper
NM_000554.6
p.D219fs
c.655_656fs
1 paper
NM_000554.6
p.L218delFs
c.654delA
1 paper
NM_000554.6
p.V226_G239del14
c.676_716del42
4 papers
NM_000554.6
p.G217fs
c.649_650fs
6 papers
NM_000554.6
p.G217delFs
c.650delG
2 papers
NM_000554.6
p.S216delFs
c.648delC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."