Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.K75insFs

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.K75insFs
c.224_225insC
Surrounding Variants
1 paper
NM_000554.6
p.K75N
c.225G>C
1 paper
NM_000554.6
p.K75_I76insFs
c.225_226insC
1 paper
NM_000554.6
p.K75N
c.225G>T
1 paper
NM_000554.6
p.I76_E80delFs
c.226_239del14
1 paper
NM_000554.6
p.L78_S81delFs
c.233_242del10
1 paper
NM_000554.6
p.V72V
c.216G>A
2 papers
NM_000554.6
p.P79S
c.235C>T
1 paper
NM_000554.6
p.P79insFs
c.236_237insG
2 papers
NM_000554.6
p.E71K
c.211G>A
1 paper
NM_000554.6
p.E71*
c.211G>T
14 papers
NM_000554.6
p.E80K
c.238G>A
4 papers
NM_000554.6
p.E80Q
c.238G>C
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