Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.T194delFs

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
5 papers
NM_000554.6
p.T194delFs
c.582delC
Surrounding Variants
1 paper
NM_000554.6
p.T194fs
c.580_581fs
1 paper
NM_000554.6
p.M193T
c.578T>C
1 paper
NM_000554.6
p.M193delFs
c.579delG
1 paper
NM_000554.6
p.T194insFs
c.580_581ins7
1 paper
NM_000554.6
p.M193fs
c.577_578fs
4 papers
NM_000554.6
p.Y195fs
c.583_584fs
2 papers
NM_000554.6
p.Y195_A196insFs
c.585_586insC
8 papers
NM_000554.6
p.Y195*
c.585C>A
8 papers
NM_000554.6
p.Y195*
c.585C>G
3 papers
NM_000554.6
p.P197insFs
c.590dupC
1 paper
NM_000554.6
p.A192fs
c.574_575fs
8 papers
NM_000554.6
p.P197delFs
c.590delC
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