Varaico: Literature-Extracted Genetic Variants

Gene:CFAP45
Variant:p.Q491_R493Fs

CFAP45

40 papers

Pfam Domains

TPHaa 184–532UCSCTrichohyalin-plectin-homology domain

Gene Aliases

HGNC Name

cilia and flagella associated protein 45

HGNC Alias Symbol

NESG1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012337.3
p.Q491_R493Fs
c.1472_1477delinsTFs
Surrounding Variants
1 paper
NM_012337.3
p.Q491fs
c.1471_1472fs
1 paper
NM_012337.3
p.R501Q
c.1502G>A
1 paper
NM_012337.3
p.R513H
c.1538G>A
1 paper
NM_012337.3
p.A452_E464del13
c.1354_1391del39
1 paper
NM_012337.3
p.E465K
c.1393G>A
1 paper
NM_012337.3
p.L522P
c.1565T>C
1 paper
NM_012337.3
p.R526Splc
c.1577+43G>C
1 paper
NM_012337.3
p.E532K
c.1594G>A
1 paper
NM_012337.3
p.N543D
c.1627A>G
1 paper
NM_012337.3
p.A434T
c.1300G>A
1 paper
NM_012337.3
p.K431R
c.1292A>G
1 paper
NM_012337.3
p.R421P
c.1262G>C
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