Varaico: Literature-Extracted Genetic Variants

Gene:CFAP44
Variant:p.K284N

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.K284N
c.852G>C
Surrounding Variants
3 papers
NM_001164496.2
p.K284N
c.852G>T
1 paper
NM_001164496.2
p.V275F
c.823G>T
1 paper
NM_001164496.2
p.K260R
c.779A>G
1 paper
NM_001164496.2
p.S245delFs
c.734_735delAG
1 paper
NM_001164496.2
p.N241Y
c.721A>T
1 paper
NM_001164496.2
p.S239insFs
c.715dupA
1 paper
NM_001164496.2
p.G230*
c.688G>T
1 paper
NM_001164496.2
p.T227insFs
c.680dupC
1 paper
NM_001164496.2
p.E300A
c.899A>C
1 paper
NM_001164496.2
p.L357insFs
c.1069_1070insAC
1 paper
NM_001164496.2
p.R359*
c.1075C>T
1 paper
NM_001164496.2
p.G378_E379del2
c.1132_1136del6
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