Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.Q228H

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
4 papers
NM_000554.6
p.Q228H
c.684G>T
Surrounding Variants
4 papers
NM_000554.6
p.Q228H
c.684G>C
7 papers
NM_000554.6
p.Q228*
c.682C>T
3 papers
NM_000554.6
p.G231delFs
c.692delG
1 paper
NM_000554.6
p.G230R
c.688G>A
1 paper
NM_000554.6
p.G230R
c.688G>C
1 paper
NM_000554.6
p.G231fs
c.691_692fs
3 papers
NM_000554.6
p.G231fs
c.691_692fs
4 papers
NM_000554.6
p.P232delFs
c.695delC
1 paper
NM_000554.6
p.V226_G239del14
c.676_716del42
2 papers
NM_000554.6
p.P232fs
c.694_695fs
1 paper
NM_000554.6
p.A233_V242del10
c.697_725del30
1 paper
NM_000554.6
p.P224_M225insC
c.670_674ins3
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