Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.V242M

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
19 papers
NM_000554.6
p.V242M
c.724G>A
Surrounding Variants
1 paper
NM_000554.6
p.G243delFs
c.728delG
4 papers
NM_000554.6
p.G243*
c.727G>T
1 paper
NM_000554.6
p.G243fs
c.727_728fs
1 paper
NM_000554.6
p.S245F
c.734C>T
1 paper
NM_000554.6
p.L237fs
c.709_710fs
1 paper
NM_000554.6
p.L237delFs
c.710delT
2 papers
NM_000554.6
p.L237fs
c.709_710fs
1 paper
NM_000554.6
p.A247A
c.741C>T
1 paper
NM_000554.6
p.P236_L237insG
c.706_710ins3
1 paper
NM_000554.6
p.Q248fs
c.742_743fs
2 papers
NM_000554.6
p.L237insFs
c.709dupC
4 papers
NM_000554.6
p.L237delFs
c.709delC
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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."