Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.D63fs

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
2 papers
NM_017565.4
p.D63fs
c.187_188fs
Surrounding Variants
1 paper
NM_017565.4
p.D63N
c.187G>A
2 papers
NM_017565.4
p.D63insFs
c.188dupA
1 paper
NM_017565.4
p.D63delFs
c.189delG
1 paper
NM_017565.4
p.A60fs
c.178_179fs
1 paper
NM_017565.4
p.A50_A59insFs
c.148_176dup29
1 paper
NM_017565.4
p.A59fs
c.175_176fs
1 paper
NM_017565.4
p.A59fs
c.175_176fs
1 paper
NM_017565.4
p.A58_A59insFs
c.174_175ins29
1 paper
NM_017565.4
p.L53P
c.158T>C
6 papers
NM_017565.4
p.R73*
c.217C>T
1 paper
NM_017565.4
p.C44fs
c.130_131fs
4 papers
NM_017565.4
p.G43delFs
c.129delC
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