Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.L173R

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
8 papers
NM_017565.4
p.L173R
c.518T>G
Surrounding Variants
1 paper
NM_017565.4
p.R176G
c.526C>G
1 paper
NM_017565.4
p.S177insFs
c.530_531ins4
1 paper
NM_017565.4
p.S177insFs
c.530_531ins5
1 paper
NM_017565.4
p.S178fs
c.532_533fs
1 paper
NM_017565.4
p.P179P
c.537T>A
2 papers
NM_017565.4
p.R156Q
c.467G>A
2 papers
NM_017565.4
p.R156*
c.466C>T
1 paper
NM_017565.4
p.I194V
c.580A>G
2 papers
NM_017565.4
p.I194I
c.582C>A
1 paper
NM_017565.4
p.P151R
c.452C>G
3 papers
NM_017565.4
p.D197Splc
c.589+1G>A
1 paper
NM_017565.4
p.T147I
c.440C>T
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