Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.D134A

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.D134A
c.401A>C
Surrounding Variants
1 paper
NM_000554.6
p.P135delFs
c.404delC
1 paper
NM_000554.6
p.P135fs
c.403_404fs
1 paper
NM_000554.6
p.G137S
c.409G>A
8 papers
NM_000554.6
p.I138fs
c.412_413fs
6 papers
NM_000554.6
p.I138delFs
c.413delT
1 paper
NM_000554.6
p.I138fs
c.412_413fs
1 paper
NM_000554.6
p.I138_S139insFs
c.414_415insG
1 paper
NM_000554.6
p.D130delFs
c.389delA
4 papers
NM_000554.6
p.S141delFs
c.421delT
1 paper
NM_000554.6
p.S128fs
c.382_383fs
1 paper
NM_000554.6
p.S128_V131delFs
c.383_392del10
1 paper
NM_000554.6
p.S141P
c.421T>C
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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."