Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.A400D

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.A400D
c.1199C>A
Surrounding Variants
1 paper
NM_017565.4
p.F402F
c.1206C>T
8 papers
NM_017565.4
p.D403N
c.1207G>A
7 papers
NM_017565.4
p.R392_L393delFs
c.1175_1179del5
1 paper
NM_017565.4
p.R392fs
c.1174_1175fs
6 papers
NM_017565.4
p.R392fs
c.1174_1175fs
1 paper
NM_017565.4
p.P386S
c.1156C>T
1 paper
NM_017565.4
p.D379N
c.1135G>A
1 paper
NM_017565.4
p.L376F
c.1126C>T
1 paper
NM_017565.4
p.G407Splc
c.1220-2A>G
3 papers
NM_017565.4
p.D410fs
c.1228_1229fs
1 paper
NM_017565.4
p.D410fs
c.1228_1229fs
2 papers
NM_017565.4
p.D410delFs
c.1228_1229delTC
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