Varaico: Literature-Extracted Genetic Variants

Gene:CFDP1
Variant:p.E175D

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.E175D
c.525A>C
Surrounding Variants
1 paper
NM_006324.3
p.E175D
c.525A>T
1 paper
NM_006324.3
p.A172V
c.515C>T
2 papers
NM_006324.3
p.K167R
c.500A>G
1 paper
NM_006324.3
p.K164R
c.491A>G
1 paper
NM_006324.3
p.K164Q
c.490A>C
2 papers
NM_006324.3
p.E161K
c.481G>A
1 paper
NM_006324.3
p.E159G
c.476A>G
1 paper
NM_006324.3
p.K158E
c.472A>G
1 paper
NM_006324.3
p.L154_K156delFs
c.462_466del5
1 paper
NM_006324.3
p.L154P
c.461T>C
1 paper
NM_006324.3
p.E153A
c.458A>C
2 papers
NM_006324.3
p.V149L
c.445G>T
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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."