Varaico: Literature-Extracted Genetic Variants

Gene:CFAP44
Variant:p.I458_T459Splc

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.I458_T459Splc
c.1375-2A>G
Surrounding Variants
4 papers
NM_001164496.2
p.E463*
c.1387G>T
1 paper
NM_001164496.2
p.S470F
c.1409C>T
3 papers
NM_001164496.2
p.V476M
c.1426G>A
2 papers
NM_001164496.2
p.P480S
c.1438C>T
1 paper
NM_001164496.2
p.P480T
c.1438C>A
1 paper
NM_001164496.2
p.P480L
c.1439C>T
1 paper
NM_001164496.2
p.A486V
c.1457C>T
1 paper
NM_001164496.2
p.D491H
c.1471G>C
1 paper
NM_001164496.2
p.A447A
c.1341C>A
1 paper
NM_001164496.2
p.N445S
c.1334A>G
1 paper
NM_001164496.2
p.A500S
c.1498G>T
1 paper
NM_001164496.2
p.A500V
c.1499C>T
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