Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.T154_T155del1

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.T154_T155del1
c.461_463delCCA
Surrounding Variants
2 papers
NM_000554.6
p.T154A
c.460A>G
3 papers
NM_000554.6
p.T154fs
c.460_461fs
1 paper
NM_000554.6
p.P153_T159insFs
c.459_477dup19
3 papers
NM_000554.6
p.T154delFs
c.460delA
2 papers
NM_000554.6
p.T155insFs
c.463_464ins4
1 paper
NM_000554.6
p.P153fs
c.457_458fs
2 papers
NM_000554.6
p.P153fs
c.457_458fs
1 paper
NM_000554.6
p.T155insFs
c.463_464ins4
2 papers
NM_000554.6
p.T155fs
c.463_464fs
4 papers
NM_000554.6
p.S152Y
c.455C>A
2 papers
NM_000554.6
p.T155insFs
c.464_465ins4
7 papers
NM_000554.6
p.P153delFs
c.458delC
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