Varaico: Literature-Extracted Genetic Variants

Gene:CFAP45
Variant:p.R303*

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
2 papers
NM_012337.3
p.R303*
c.907C>T
Surrounding Variants
1 paper
NM_012337.3
p.I318V
c.952A>G
2 papers
NM_012337.3
p.L329L
c.987G>C
1 paper
NM_012337.3
p.Q332Q
c.996G>A
1 paper
NM_012337.3
p.K299_D300Splc
c.898-240G>A
1 paper
NM_012337.3
p.E357K
c.1069G>A
1 paper
NM_012337.3
p.E366D
c.1098G>T
1 paper
NM_012337.3
p.K367T
c.1100A>C
2 papers
NM_012337.3
p.E291G
c.872A>G
1 paper
NM_012337.3
p.E288Q
c.862G>C
1 paper
NM_012337.3
p.M286T
c.857T>C
1 paper
NM_012337.3
p.R279Q
c.836G>A
1 paper
NM_012337.3
p.S273S
c.819G>A
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