Varaico: Literature-Extracted Genetic Variants

Gene:CFAP221
Variant:p.R485H

CFAP221

75 papers

Gene Aliases

HGNC Name

cilia and flagella associated protein 221

HGNC Alias Symbols

FAP221; PCDP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001271049.2
p.R485H
c.1454G>A
Surrounding Variants
1 paper
NM_001271049.2
p.K489_E490delFs
c.1465_1468del4
1 paper
NM_001271049.2
p.R476Q
c.1427G>A
1 paper
NM_001271049.2
p.R515fs
c.1543_1544fs
1 paper
NM_001271049.2
p.F526L
c.1576T>C
1 paper
NM_001271049.2
p.F526L
c.1578C>A
1 paper
NM_001271049.2
p.F526L
c.1578C>G
4 papers
NM_001271049.2
p.S547insFs
c.1641dupC
1 paper
NM_001271049.2
p.Q569insFs
c.1706dupA
2 papers
NM_001271049.2
p.S572Y
c.1715C>A
1 paper
NM_001271049.2
p.Q577_V578Splc
c.1731+106G>C
1 paper
NM_001271049.2
p.I584T
c.1751T>C
2 papers
NM_001271049.2
p.R606*
c.1816C>T
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