Varaico: Literature-Extracted Genetic Variants

Gene:CFDP1
Variant:p.I100I

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.I100I
c.300T>A
Surrounding Variants
1 paper
NM_006324.3
p.A94E
c.281C>A
1 paper
NM_006324.3
p.D92N
c.274G>A
1 paper
NM_006324.3
p.E90_D91ins7
c.270_271ins21
1 paper
NM_006324.3
p.E90K
c.268G>A
1 paper
NM_006324.3
p.E89D
c.267G>C
1 paper
NM_006324.3
p.E112Q
c.334G>C
1 paper
NM_006324.3
p.E112G
c.335A>G
1 paper
NM_006324.3
p.A115V
c.344C>T
1 paper
NM_006324.3
p.G84E
c.251G>A
2 papers
NM_006324.3
p.F117C
c.350T>G
1 paper
NM_006324.3
p.E83K
c.247G>A
1 paper
NM_006324.3
p.D120N
c.358G>A
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