Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.V180insFs

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
2 papers
NM_000554.6
p.V180insFs
c.538dupG
Surrounding Variants
1 paper
NM_000554.6
p.L179fs
c.535_536fs
1 paper
NM_000554.6
p.V180M
c.538G>A
1 paper
NM_000554.6
p.V180fs
c.538_539fs
1 paper
NM_000554.6
p.V180fs
c.538_539fs
2 papers
NM_000554.6
p.A181delFs
c.541delG
1 paper
NM_000554.6
p.A181T
c.541G>A
1 paper
NM_000554.6
p.A181delFs
c.543delC
2 papers
NM_000554.6
p.A181fs
c.541_542fs
1 paper
NM_000554.6
p.G178delFs
c.534delG
2 papers
NM_000554.6
p.A177fs
c.529_530fs
1 paper
NM_000554.6
p.S182fs
c.544_545fs
2 papers
NM_000554.6
p.S182*
c.545C>A
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