Varaico: Literature-Extracted Genetic Variants

Gene:CFAP100
Variant:p.L137_T138delFs

CFAP100

56 papers

Pfam Domains

DUF4200aa 151–269UCSCDomain of unknown function (DUF4200)

Gene Aliases

HGNC Name

cilia and flagella associated protein 100

HGNC Previous Symbol

CCDC37

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_182628.3
p.L137_T138delFs
c.411_412delGA
Surrounding Variants
1 paper
NM_182628.3
p.A126S
c.376G>T
1 paper
NM_182628.3
p.E120G
c.359A>G
1 paper
NM_182628.3
p.L108L
c.322C>T
1 paper
NM_182628.3
p.E140Splc
c.419-28C>T
1 paper
NM_182628.3
p.E176G
c.527A>G
1 paper
NM_182628.3
p.A179A
c.537G>A
1 paper
NM_182628.3
p.E183K
c.547G>A
1 paper
NM_182628.3
p.E183Q
c.547G>C
1 paper
NM_182628.3
p.R188Q
c.563G>A
2 papers
NM_182628.3
p.E190K
c.568G>A
2 papers
NM_182628.3
p.A197T
c.589G>A
1 paper
NM_182628.3
p.A198G
c.593C>G
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