Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.L267F

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.L267F
c.801G>T
Surrounding Variants
1 paper
NM_000554.6
p.L267F
c.801G>C
1 paper
NM_000554.6
p.D265V
c.794A>T
1 paper
NM_000554.6
p.P272delFs
c.816delC
5 papers
NM_000554.6
p.V264M
c.790G>A
3 papers
NM_000554.6
p.V264fs
c.790_791fs
1 paper
NM_000554.6
p.P263fs
c.787_788fs
3 papers
NM_000554.6
p.P263fs
c.787_788fs
5 papers
NM_000554.6
p.P272_T273Fs
c.816_818delinsAAFs
3 papers
NM_000554.6
p.P263_V264delFs
c.787_790del4
4 papers
NM_000554.6
p.T273fs
c.817_818fs
5 papers
NM_000554.6
p.P263delFs
c.789delC
1 paper
NM_000554.6
p.S262delFs
c.785delG
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