Varaico: Literature-Extracted Genetic Variants

Gene:CFDP1
Variant:p.N204D

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
2 papers
NM_006324.3
p.N204D
c.610A>G
Surrounding Variants
1 paper
NM_006324.3
p.P201Q
c.602C>A
1 paper
NM_006324.3
p.S207A
c.619T>G
1 paper
NM_006324.3
p.A208P
c.622G>C
1 paper
NM_006324.3
p.K198E
c.592A>G
1 paper
NM_006324.3
p.S211L
c.632C>T
1 paper
NM_006324.3
p.A214V
c.641C>T
1 paper
NM_006324.3
p.F193Y
c.578T>A
1 paper
NM_006324.3
p.S191T
c.571T>A
2 papers
NM_006324.3
p.A189T
c.565G>A
1 paper
NM_006324.3
p.E188Q
c.562G>C
1 paper
NM_006324.3
p.D183N
c.547G>A
1 paper
NM_006324.3
p.T179S
c.536C>G
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