Varaico: Literature-Extracted Genetic Variants

Gene:CFAP44
Variant:p.P745L

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
3 papers
NM_001164496.2
p.P745L
c.2234C>T
Surrounding Variants
1 paper
NM_001164496.2
p.F743L
c.2229T>G
1 paper
NM_001164496.2
p.F743L
c.2229T>A
1 paper
NM_001164496.2
p.F743L
c.2227T>C
2 papers
NM_001164496.2
p.E737del1
c.2209_2210delCTC
1 paper
NM_001164496.2
p.E734_E735del2
c.2200_2204del6
3 papers
NM_001164496.2
p.E734_E735del1
c.2202_2204delTCC
1 paper
NM_001164496.2
p.S757L
c.2270C>T
1 paper
NM_001164496.2
p.W763L
c.2288G>T
1 paper
NM_001164496.2
p.F762_W763delFs
c.2286_2287delAG
1 paper
NM_001164496.2
p.E721G
c.2162A>G
1 paper
NM_001164496.2
p.R703G
c.2107A>G
1 paper
NM_001164496.2
p.I702L
c.2104A>T
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