Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.R243*

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
7 papers
NM_017565.4
p.R243*
c.727C>T
Surrounding Variants
3 papers
NM_017565.4
p.E245fs
c.733_734fs
1 paper
NM_017565.4
p.E245fs
c.733_734fs
1 paper
NM_017565.4
p.E246K
c.736G>A
4 papers
NM_017565.4
p.E245delFs
c.734_735delCT
4 papers
NM_017565.4
p.R240Splc
c.720-2A>G
1 paper
NM_017565.4
p.V249A
c.746T>C
4 papers
NM_017565.4
p.Y253C
c.758A>G
7 papers
NM_017565.4
p.F252del1
c.754_755delGAA
1 paper
NM_017565.4
p.F254L
c.760T>C
1 paper
NM_017565.4
p.F254L
c.762C>G
1 paper
NM_017565.4
p.F254L
c.762C>A
2 papers
NM_017565.4
p.Q258fs
c.772_773fs
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