Varaico: Literature-Extracted Genetic Variants

Gene:CFAP44
Variant:p.F1644F

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.F1644F
c.4932C>T
Surrounding Variants
1 paper
NM_001164496.2
p.R1651W
c.4951C>T
3 papers
NM_001164496.2
p.R1655*
c.4963C>T
1 paper
NM_001164496.2
p.R1655Q
c.4964G>A
3 papers
NM_001164496.2
p.H1657R
c.4970A>G
1 paper
NM_001164496.2
p.Y1628F
c.4883A>T
1 paper
NM_001164496.2
p.Q1625_I1626Splc
c.4876-32C>T
1 paper
NM_001164496.2
p.R1682Q
c.5045G>A
1 paper
NM_001164496.2
p.E1683Q
c.5047G>C
1 paper
NM_001164496.2
p.Q1625_I1626Splc
c.4875+8G>A
1 paper
NM_001164496.2
p.V1618delFs
c.4852delC
2 papers
NM_001164496.2
p.I1589delFs
c.4767delA
1 paper
NM_001164496.2
p.K1570N
c.4710G>T
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