Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.L171delFs

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
5 papers
NM_000554.6
p.L171delFs
c.511delT
Surrounding Variants
1 paper
NM_000554.6
p.P170L
c.509C>T
1 paper
NM_000554.6
p.P170T
c.508C>A
3 papers
NM_000554.6
p.P170fs
c.508_509fs
2 papers
NM_000554.6
p.L171fs
c.511_512fs
1 paper
NM_000554.6
p.L171insFs
c.512_513insGC
2 papers
NM_000554.6
p.P172delFs
c.514delC
4 papers
NM_000554.6
p.P170delFs
c.509delC
1 paper
NM_000554.6
p.P172fs
c.514_515fs
1 paper
NM_000554.6
p.E168K
c.502G>A
1 paper
NM_000554.6
p.E168fs
c.502_503fs
4 papers
NM_000554.6
p.E168fs
c.502_503fs
5 papers
NM_000554.6
p.E168delFs
c.502delG
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."