Varaico: Literature-Extracted Genetic Variants

Gene:CFAP44
Variant:p.N1721K

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
4 papers
NM_001164496.2
p.N1721K
c.5163T>G
Surrounding Variants
4 papers
NM_001164496.2
p.N1721K
c.5163T>A
2 papers
NM_001164496.2
p.T1717M
c.5150C>T
1 paper
NM_001164496.2
p.Q1700*
c.5098C>T
1 paper
NM_001164496.2
p.T1697A
c.5089A>G
1 paper
NM_001164496.2
p.E1696K
c.5086G>A
1 paper
NM_001164496.2
p.E1746_E1747Splc
c.5238+19T>G
1 paper
NM_001164496.2
p.C1774_I1775del2
c.5320_5324del6
1 paper
NM_001164496.2
p.D1781Y
c.5341G>T
1 paper
NM_001164496.2
p.Q1790*
c.5368C>T
1 paper
NM_001164496.2
p.Q1791_G1792Splc
c.5373+560T>C
1 paper
NM_001164496.2
p.Q1791_G1792Splc
c.5373+737C>T
1 paper
NM_001164496.2
p.P1798S
c.5392C>T
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