Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.Q519*

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.Q519*
c.1555C>T
Surrounding Variants
1 paper
NM_017565.4
p.V514E
c.1541T>A
1 paper
NM_017565.4
p.G511_C512delins
c.1532_1534delinsGTC
1 paper
NM_017565.4
p.V527M
c.1579G>A
1 paper
NM_017565.4
p.T508fs
c.1522_1523fs
2 papers
NM_017565.4
p.T508delFs
c.1523delG
1 paper
NM_017565.4
p.L530_A531ins4
c.1588_1592ins12
3 papers
NM_017565.4
p.T508fs
c.1522_1523fs
1 paper
NM_017565.4
p.L530S
c.1589T>C
1 paper
NM_017565.4
p.L506Q
c.1517T>A
1 paper
NM_017565.4
p.I505fs
c.1513_1514fs
6 papers
NM_017565.4
p.I505delFs
c.1513delT
4 papers
NM_017565.4
p.I505fs
c.1513_1514fs
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