Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.D197Splc

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.D197Splc
c.590-5T>A
Surrounding Variants
1 paper
NM_017565.4
p.D197Splc
c.590-3C>A
8 papers
NM_017565.4
p.D197Splc
c.590-2A>G
1 paper
NM_017565.4
p.D201H
c.601G>C
1 paper
NM_017565.4
p.A204fs
c.610_611fs
1 paper
NM_017565.4
p.A204delFs
c.610delC
4 papers
NM_017565.4
p.A204delFs
c.612delG
4 papers
NM_017565.4
p.L205fs
c.613_614fs
1 paper
NM_017565.4
p.L205fs
c.613_614fs
2 papers
NM_017565.4
p.C209S
c.625T>A
2 papers
NM_017565.4
p.C209S
c.626G>C
1 paper
NM_017565.4
p.C209Y
c.626G>A
3 papers
NM_017565.4
p.D197Splc
c.589+1G>A
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