Varaico: Literature-Extracted Genetic Variants

Gene:CFAP45
Variant:p.E291G

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.E291G
c.872A>G
Surrounding Variants
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
1 paper
NM_012337.3
p.R272Q
c.815G>A
1 paper
NM_012337.3
p.R259Q
c.776G>A
1 paper
NM_012337.3
p.R256Splc
c.768-37G>T
2 papers
NM_012337.3
p.Q241*
c.721C>T
1 paper
NM_012337.3
p.R227Q
c.680G>A
1 paper
NM_012337.3
p.R207Q
c.620G>A
1 paper
NM_012337.3
p.R207W
c.619C>T
1 paper
NM_012337.3
p.K196N
c.588G>T
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