Varaico: Literature-Extracted Genetic Variants

Gene:CFAP44
Variant:p.M669delFs

CFAP44

142 papers

Pfam Domains

Beta-prop_EMLaa 184–440UCSCEchinoderm microtubule-associated protein first beta-propeller
WD40aa 461–498UCSCWD domain, G-beta repeat
WD40aa 565–603UCSCWD domain, G-beta repeat
WD40aa 848–886UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

cilia and flagella associated protein 44

HGNC Previous Symbol

WDR52

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001164496.2
p.M669delFs
c.2005_2006delAT
Surrounding Variants
1 paper
NM_001164496.2
p.M669T
c.2006T>C
4 papers
NM_001164496.2
p.M669fs
c.2005_2006fs
1 paper
NM_001164496.2
p.A647G
c.1940C>G
1 paper
NM_001164496.2
p.I637V
c.1909A>G
1 paper
NM_001164496.2
p.R685I
c.2054G>T
1 paper
NM_001164496.2
p.I687insFs
c.2061dupA
1 paper
NM_001164496.2
p.R696M
c.2087G>T
1 paper
NM_001164496.2
p.I702L
c.2104A>T
1 paper
NM_001164496.2
p.I702L
c.2104A>C
1 paper
NM_001164496.2
p.R703G
c.2107A>G
1 paper
NM_001164496.2
p.E721G
c.2162A>G
3 papers
NM_001164496.2
p.E734_E735del1
c.2202_2204delTCC
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