Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.Y414*

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.Y414*
c.1242T>A
Surrounding Variants
2 papers
NM_017565.4
p.Y414*
c.1242T>G
1 paper
NM_017565.4
p.E415*
c.1243G>T
2 papers
NM_017565.4
p.M416insFs
c.1248dupG
3 papers
NM_017565.4
p.F417fs
c.1249_1250fs
1 paper
NM_017565.4
p.F417fs
c.1249_1250fs
2 papers
NM_017565.4
p.R411Q
c.1232G>A
3 papers
NM_017565.4
p.R411W
c.1231C>T
1 paper
NM_017565.4
p.D410fs
c.1228_1229fs
2 papers
NM_017565.4
p.D410delFs
c.1228_1229delTC
3 papers
NM_017565.4
p.D410fs
c.1228_1229fs
1 paper
NM_017565.4
p.G407Splc
c.1220-2A>G
1 paper
NM_017565.4
p.D430A
c.1289A>C
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