Varaico: Literature-Extracted Genetic Variants

Gene:CFAP53
Variant:p.E338V

CFAP53

38 papers

RefSeq Summary

This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated wi...

Pfam Domains

TPHaa 157–494UCSCTrichohyalin-plectin-homology domain

Gene Aliases

HGNC Name

cilia and flagella associated protein 53

HGNC Alias Symbol

FLJ32743

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_145020.5
p.E338V
c.1013A>T
Surrounding Variants
1 paper
NM_145020.5
p.H343L
c.1028A>T
1 paper
NM_145020.5
p.E333fs
c.997_998fs
1 paper
NM_145020.5
p.K344*
c.1030A>T
1 paper
NM_145020.5
p.E359K
c.1075G>A
3 papers
NM_145020.5
p.E382*
c.1144G>T
1 paper
NM_145020.5
p.K398K
c.1194A>G
2 papers
NM_145020.5
p.L405Splc
c.1213+1G>A
2 papers
NM_145020.5
p.R407*
c.1219C>T
1 paper
NM_145020.5
p.K410T
c.1229A>C
1 paper
NM_145020.5
p.R415S
c.1243C>A
1 paper
NM_145020.5
p.E418E
c.1254A>G
1 paper
NM_145020.5
p.K420K
c.1260A>G
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