Varaico: Literature-Extracted Genetic Variants

Gene:CFAP44
Variant:p.G378_E379del2

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
1 paper
NM_001164496.2
p.G378_E379del2
c.1132_1136del6
Surrounding Variants
1 paper
NM_001164496.2
p.D386G
c.1157A>G
1 paper
NM_001164496.2
p.R359*
c.1075C>T
1 paper
NM_001164496.2
p.L357insFs
c.1069_1070insAC
1 paper
NM_001164496.2
p.R390_I391Splc
c.1171-2A>C
1 paper
NM_001164496.2
p.W392R
c.1174T>C
1 paper
NM_001164496.2
p.W392R
c.1174T>A
1 paper
NM_001164496.2
p.E412delFs
c.1235delT
1 paper
NM_001164496.2
p.L425F
c.1273C>T
1 paper
NM_001164496.2
p.M431delFs
c.1291delT
1 paper
NM_001164496.2
p.N437T
c.1310A>C
1 paper
NM_001164496.2
p.Q442E
c.1324C>G
1 paper
NM_001164496.2
p.N445S
c.1334A>G
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