Varaico: Literature-Extracted Genetic Variants

Gene:CFDP1
Variant:p.E89D

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
Selected Variant
1 paper
NM_006324.3
p.E89D
c.267G>C
Surrounding Variants
1 paper
NM_006324.3
p.E90K
c.268G>A
1 paper
NM_006324.3
p.E90_D91ins7
c.270_271ins21
1 paper
NM_006324.3
p.D92N
c.274G>A
1 paper
NM_006324.3
p.A94E
c.281C>A
1 paper
NM_006324.3
p.G84E
c.251G>A
1 paper
NM_006324.3
p.E83K
c.247G>A
1 paper
NM_006324.3
p.N79K
c.237T>G
1 paper
NM_006324.3
p.N79K
c.237T>A
1 paper
NM_006324.3
p.I100I
c.300T>A
1 paper
NM_006324.3
p.E76K
c.226G>A
1 paper
NM_006324.3
p.E75G
c.224A>G
1 paper
NM_006324.3
p.E75A
c.224A>C
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