Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.Q248fs

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.Q248fs
c.742_743fs
Surrounding Variants
1 paper
NM_000554.6
p.A247A
c.741C>T
1 paper
NM_000554.6
p.S245F
c.734C>T
1 paper
NM_000554.6
p.P250_S257Fs
c.749_769delinsCATGAFs
1 paper
NM_000554.6
p.T251delFs
c.753delC
1 paper
NM_000554.6
p.S252fs
c.754_755fs
1 paper
NM_000554.6
p.S252C
c.755C>G
1 paper
NM_000554.6
p.L253delFs
c.758delT
1 paper
NM_000554.6
p.L253fs
c.757_758fs
4 papers
NM_000554.6
p.G243*
c.727G>T
1 paper
NM_000554.6
p.G243fs
c.727_728fs
1 paper
NM_000554.6
p.G243delFs
c.728delG
19 papers
NM_000554.6
p.V242M
c.724G>A
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