Varaico: Literature-Extracted Genetic Variants

Gene:CFAP44
Variant:p.T123T

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.T123T
c.369T>A
Surrounding Variants
1 paper
NM_001164496.2
p.S126_N127delFs
c.378_379delTT
2 papers
NM_001164496.2
p.P129Q
c.386C>A
1 paper
NM_001164496.2
p.D112delFs
c.335_336delAT
1 paper
NM_001164496.2
p.D112A
c.335A>C
1 paper
NM_001164496.2
p.I105T
c.314T>C
1 paper
NM_001164496.2
p.V101insFs
c.302dupT
1 paper
NM_001164496.2
p.E100K
c.298G>A
1 paper
NM_001164496.2
p.E98G
c.293A>G
1 paper
NM_001164496.2
p.P90S
c.268C>T
1 paper
NM_001164496.2
p.T89I
c.266C>T
1 paper
NM_001164496.2
p.Q87*
c.259C>T
1 paper
NM_001164496.2
p.F75_L80insFs
c.224_240dup17
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