Varaico: Literature-Extracted Genetic Variants

Gene:CFAP206
Variant:p.P220L

CFAP206

50 papers

Pfam Domains

FAP206aa 214–491UCSCDomain of unknown function

Gene Aliases

HGNC Name

cilia and flagella associated protein 206

HGNC Previous Symbol

C6orf165

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001031743.3
p.P220L
c.659C>T
Surrounding Variants
1 paper
NM_001031743.3
p.L230R
c.689T>G
1 paper
NM_001031743.3
p.Y238*
c.714C>A
1 paper
NM_001031743.3
p.Y238*
c.714C>G
1 paper
NM_001031743.3
p.K203_G204del1
c.609_611delAGG
1 paper
NM_001031743.3
p.K203_G204del2
c.607_611del6
1 paper
NM_001031743.3
p.R195S
c.583C>A
1 paper
NM_001031743.3
p.G170A
c.509G>C
3 papers
NM_001031743.3
p.R154K
c.461G>A
2 papers
NM_001031743.3
p.R141H
c.422G>A
2 papers
NM_001031743.3
p.D118G
c.353A>G
1 paper
NM_001031743.3
p.V112A
c.335T>C
1 paper
NM_001031743.3
p.G110D
c.329G>A
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