Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.P145delFs

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.P145delFs
c.435delT
Surrounding Variants
1 paper
NM_000554.6
p.P145H
c.434C>A
7 papers
NM_000554.6
p.P145fs
c.433_434fs
2 papers
NM_000554.6
p.L146_P149del0
c.436_447del12
1 paper
NM_000554.6
p.L146fs
c.436_437fs
1 paper
NM_000554.6
p.L146_S150delFs
c.437_449del13
1 paper
NM_000554.6
p.P145insFs
c.434dupC
3 papers
NM_000554.6
p.S143_P144Fs
c.429_430delinsAFs
4 papers
NM_000554.6
p.P145delFs
c.434delC
1 paper
NM_000554.6
p.P147H
c.440C>A
1 paper
NM_000554.6
p.P147_T155delFs
c.441_463del23
3 papers
NM_000554.6
p.S143delFs
c.429delT
3 papers
NM_000554.6
p.S143fs
c.427_428fs
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