Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.K120E

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.K120E
c.358A>G
Surrounding Variants
1 paper
NM_000554.6
p.R119K
c.356G>A
1 paper
NM_000554.6
p.R119R
c.355A>C
2 papers
NM_000554.6
p.A121V
c.362C>T
2 papers
NM_000554.6
p.G122delFs
c.365delG
1 paper
NM_000554.6
p.K118fs
c.352_353fs
2 papers
NM_000554.6
p.G122R
c.364G>C
1 paper
NM_000554.6
p.G122C
c.364G>T
2 papers
NM_000554.6
p.G122fs
c.364_365fs
12 papers
NM_000554.6
p.G122D
c.365G>A
1 paper
NM_000554.6
p.T123_S128del6
c.367_383del18
1 paper
NM_000554.6
p.A117T
c.349G>A
1 paper
NM_000554.6
p.A117insFs
c.351dupC
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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."