Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.R115Q

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.R115Q
c.344G>A
Surrounding Variants
1 paper
NM_000554.6
p.R115G
c.343C>G
1 paper
NM_000554.6
p.R115W
c.343C>T
1 paper
NM_000554.6
p.A114V
c.341C>T
1 paper
NM_000554.6
p.A117T
c.349G>A
1 paper
NM_000554.6
p.A117insFs
c.351dupC
1 paper
NM_000554.6
p.K113insFs
c.339dupG
1 paper
NM_000554.6
p.K118fs
c.352_353fs
3 papers
NM_000554.6
p.A112V
c.335C>T
1 paper
NM_000554.6
p.A112T
c.334G>A
1 paper
NM_000554.6
p.R119R
c.355A>C
1 paper
NM_000554.6
p.R119K
c.356G>A
1 paper
NM_000554.6
p.Q111*
c.331C>T
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