Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.P197P

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.P197P
c.591G>C
Surrounding Variants
2 papers
NM_000554.6
p.A198fs
c.592_593fs
7 papers
NM_000554.6
p.P197fs
c.589_590fs
1 paper
NM_000554.6
p.P197_A198insFs
c.591_594dup4
1 paper
NM_000554.6
p.P197_S199delFs
c.591_597del7
1 paper
NM_000554.6
p.S199fs
c.595_596fs
2 papers
NM_000554.6
p.S199F
c.596C>T
3 papers
NM_000554.6
p.P197insFs
c.590dupC
8 papers
NM_000554.6
p.P197delFs
c.590delC
1 paper
NM_000554.6
p.P197delFs
c.589_590delCC
2 papers
NM_000554.6
p.A196fs
c.586_587fs
2 papers
NM_000554.6
p.A196_P197delFs
c.587_590del4
8 papers
NM_000554.6
p.Y195*
c.585C>A
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