Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.E326del1

FAM20A

118 papers

RefSeq Summary

This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alt...

Pfam Domains

Fam20Caa 305–522UCSCGolgi casein kinase, C-terminal, Fam20

Gene Aliases

HGNC Name

FAM20A golgi associated secretory pathway pseudokinase

HGNC Alias Symbol

DKFZp434F2322

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017565.4
p.E326del1
c.976_977delCTC
Surrounding Variants
1 paper
NM_017565.4
p.Y327H
c.979T>C
1 paper
NM_017565.4
p.E326fs
c.976_977fs
1 paper
NM_017565.4
p.E326A
c.977A>C
4 papers
NM_017565.4
p.E326insFs
c.976_977insG
3 papers
NM_017565.4
p.E326fs
c.976_977fs
1 paper
NM_017565.4
p.T325delFs
c.974delG
4 papers
NM_017565.4
p.C330R
c.988T>C
1 paper
NM_017565.4
p.C330fs
c.988_989fs
1 paper
NM_017565.4
p.V329_C330delFs
c.987_990del4
11 papers
NM_017565.4
p.G331D
c.992G>A
5 papers
NM_017565.4
p.N332K
c.996C>G
5 papers
NM_017565.4
p.N332K
c.996C>A
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