Varaico: Literature-Extracted Genetic Variants

Gene:CFAP44

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
1–12 of 220 variants
5 papers
NM_001164496.2
p.K53E
c.157A>G
5 papers
NM_001164496.2
p.M669delFs
c.2005_2006delAT
4 papers
NM_001164496.2
p.E463*
c.1387G>T
4 papers
NM_001164496.2
p.M669fs
c.2005_2006fs
4 papers
NM_001164496.2
p.N1721K
c.5163T>G
4 papers
NM_001164496.2
p.N1721K
c.5163T>A
3 papers
NM_001164496.2
p.K284N
c.852G>T
3 papers
NM_001164496.2
p.K284N
c.852G>C
3 papers
NM_001164496.2
p.V476M
c.1426G>A
3 papers
NM_001164496.2
p.E734_E735del1
c.2202_2204delTCC
3 papers
NM_001164496.2
p.P745L
c.2234C>T
3 papers
NM_001164496.2
p.R1655*
c.4963C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."