Varaico: Literature-Extracted Genetic Variants

Gene:CFDP1

CFDP1

235 papers

Pfam Domains

BCNTaa 221–295UCSCBucentaur or craniofacial development

Gene Aliases

HGNC Name

craniofacial development protein 1

HGNC Alias Symbols

BCNT; p97; CP27; SWC5; Yeti; CENP-29

Papers
RefSeq ID
Protein change
DNA change
1–12 of 87 variants
2 papers
NM_006324.3
p.S10P
c.28T>C
2 papers
NM_006324.3
p.E14K
c.40G>A
2 papers
NM_006324.3
p.A60T
c.178G>A
2 papers
NM_006324.3
p.R63S
c.189A>T
2 papers
NM_006324.3
p.F117C
c.350T>G
2 papers
NM_006324.3
p.E141A
c.422A>C
2 papers
NM_006324.3
p.V149L
c.445G>T
2 papers
NM_006324.3
p.V149L
c.445G>C
2 papers
NM_006324.3
p.E161K
c.481G>A
2 papers
NM_006324.3
p.K167R
c.500A>G
2 papers
NM_006324.3
p.A189T
c.565G>A
2 papers
NM_006324.3
p.N204D
c.610A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."