Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.S303fs

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
3 papers
NM_017565.4
p.S303fs
c.907_908fs
Surrounding Variants
2 papers
NM_017565.4
p.S303fs
c.907_908fs
4 papers
NM_017565.4
p.S303delFs
c.907_908delCT
1 paper
NM_017565.4
p.V304I
c.910G>A
7 papers
NM_017565.4
p.F305fs
c.913_914fs
1 paper
NM_017565.4
p.I300S
c.899T>G
2 papers
NM_017565.4
p.F305fs
c.913_914fs
1 paper
NM_017565.4
p.F305L
c.915C>A
3 papers
NM_017565.4
p.F305delFs
c.913_914delAA
1 paper
NM_017565.4
p.E299G
c.896A>G
1 paper
NM_017565.4
p.E299insFs
c.896_897insT
11 papers
NM_017565.4
p.F305_F306delFs
c.915_918del4
1 paper
NM_017565.4
p.P309R
c.926C>G
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