Varaico: Literature-Extracted Genetic Variants

Gene:CFAP44
Variant:p.D48_E49del1

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.D48_E49del1
c.143_145delCAT
Surrounding Variants
1 paper
NM_001164496.2
p.T52T
c.156C>T
5 papers
NM_001164496.2
p.K53E
c.157A>G
1 paper
NM_001164496.2
p.T52_K53delins
c.156_157delinsTG
1 paper
NM_001164496.2
p.T41delFs
c.123delT
1 paper
NM_001164496.2
p.D64N
c.190G>A
2 papers
NM_001164496.2
p.S34F
c.101C>T
1 paper
NM_001164496.2
p.F75_L80insFs
c.224_240dup17
1 paper
NM_001164496.2
p.Q87*
c.259C>T
1 paper
NM_001164496.2
p.T89I
c.266C>T
1 paper
NM_001164496.2
p.P90S
c.268C>T
1 paper
NM_001164496.2
p.E98G
c.293A>G
1 paper
NM_001164496.2
p.E100K
c.298G>A
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