Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.G183G

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
2 papers
NM_000554.6
p.G183G
c.549G>A
Surrounding Variants
2 papers
NM_000554.6
p.P184S
c.550C>T
3 papers
NM_000554.6
p.P184L
c.551C>T
2 papers
NM_000554.6
p.S182*
c.545C>A
2 papers
NM_000554.6
p.S182*
c.545C>G
3 papers
NM_000554.6
p.S182delFs
c.546delA
1 paper
NM_000554.6
p.S182fs
c.544_545fs
2 papers
NM_000554.6
p.L186insFs
c.557dupT
1 paper
NM_000554.6
p.A181T
c.541G>A
1 paper
NM_000554.6
p.A181delFs
c.543delC
2 papers
NM_000554.6
p.A181fs
c.541_542fs
3 papers
NM_000554.6
p.T187fs
c.559_560fs
2 papers
NM_000554.6
p.A181delFs
c.541delG
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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."