Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.S203delFs

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
3 papers
NM_000554.6
p.S203delFs
c.608_609delCT
Surrounding Variants
1 paper
NM_000554.6
p.C202R
c.604T>C
7 papers
NM_000554.6
p.C202delFs
c.605delG
5 papers
NM_000554.6
p.C202fs
c.604_605fs
1 paper
NM_000554.6
p.S203fs
c.607_608fs
2 papers
NM_000554.6
p.S203fs
c.607_608fs
3 papers
NM_000554.6
p.S204fs
c.610_611fs
14 papers
NM_000554.6
p.P205delFs
c.615delC
2 papers
NM_000554.6
p.S199S
c.597C>T
1 paper
NM_000554.6
p.P205S
c.613C>T
2 papers
NM_000554.6
p.S199F
c.596C>T
1 paper
NM_000554.6
p.S199fs
c.595_596fs
5 papers
NM_000554.6
p.S206fs
c.616_617fs
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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."