Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.L12delFs

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
14 papers
NM_017565.4
p.L12delFs
c.34_35delAG
Surrounding Variants
10 papers
NM_017565.4
p.L12fs
c.34_35fs
1 paper
NM_017565.4
p.L10insFs
c.30dupG
1 paper
NM_017565.4
p.L18R
c.53T>G
1 paper
NM_017565.4
p.L18delins
c.53_54delinsAG
2 papers
NM_017565.4
p.G3V
c.8G>T
1 paper
NM_017565.4
p.G3Fs
c.7delinsTGFs
5 papers
NM_017565.4
p.G3Fs
c.7delinsTGGTCFs
1 paper
NM_017565.4
p.M1insFs
c.1dupA
1 paper
NM_017565.4
p.M1T
c.2T>C
1 paper
NM_017565.4
p.W28*
c.83G>A
1 paper
NM_017565.4
p.W28*
c.84G>A
6 papers
NM_017565.4
p.Q34_L35del2
c.100_104del6
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