Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.Y208*

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
7 papers
NM_000554.6
p.Y208*
c.624T>G
Surrounding Variants
7 papers
NM_000554.6
p.Y208*
c.624T>A
1 paper
NM_000554.6
p.A207delFs
c.620delC
5 papers
NM_000554.6
p.S206fs
c.616_617fs
1 paper
NM_000554.6
p.P205S
c.613C>T
6 papers
NM_000554.6
p.S212delFs
c.636delC
1 paper
NM_000554.6
p.S213P
c.637T>C
2 papers
NM_000554.6
p.S213fs
c.637_638fs
3 papers
NM_000554.6
p.S213delFs
c.639delC
5 papers
NM_000554.6
p.S213fs
c.637_638fs
3 papers
NM_000554.6
p.S204fs
c.610_611fs
14 papers
NM_000554.6
p.P205delFs
c.615delC
1 paper
NM_000554.6
p.S213_Y214insFs
c.639_640insT
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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."