Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.G151C

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.G151C
c.451G>T
Surrounding Variants
5 papers
NM_000554.6
p.S150*
c.449C>A
6 papers
NM_000554.6
p.S150*
c.449C>G
7 papers
NM_000554.6
p.P153delFs
c.458delC
5 papers
NM_000554.6
p.S150fs
c.448_449fs
4 papers
NM_000554.6
p.S152Y
c.455C>A
2 papers
NM_000554.6
p.S150delFs
c.448_449delTC
1 paper
NM_000554.6
p.P149fs
c.445_446fs
1 paper
NM_000554.6
p.P153fs
c.457_458fs
2 papers
NM_000554.6
p.P153fs
c.457_458fs
1 paper
NM_000554.6
p.P149fs
c.445_446fs
1 paper
NM_000554.6
p.P153_T159insFs
c.459_477dup19
3 papers
NM_000554.6
p.T154delFs
c.460delA
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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."