Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.M283R

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.M283R
c.848T>G
Surrounding Variants
1 paper
NM_000554.6
p.M283delFs
c.848delT
1 paper
NM_000554.6
p.D284delFs
c.851delA
1 paper
NM_000554.6
p.D284fs
c.850_851fs
1 paper
NM_000554.6
p.P282A
c.844C>G
1 paper
NM_000554.6
p.Y280F
c.839A>T
1 paper
NM_000554.6
p.Y280H
c.838T>C
1 paper
NM_000554.6
p.D287E
c.861C>A
1 paper
NM_000554.6
p.D287E
c.861C>G
1 paper
NM_000554.6
p.W276*
c.828G>A
2 papers
NM_000554.6
p.W276*
c.827G>A
1 paper
NM_000554.6
p.G274A
c.821G>C
5 papers
NM_000554.6
p.G274fs
c.820_821fs
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."