Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.P488S

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.P488S
c.1462C>T
Surrounding Variants
1 paper
NM_017565.4
p.T491I
c.1472C>T
1 paper
NM_017565.4
p.E492*
c.1474G>T
1 paper
NM_017565.4
p.E483fs
c.1447_1448fs
4 papers
NM_017565.4
p.E483delFs
c.1447delC
5 papers
NM_017565.4
p.E483fs
c.1447_1448fs
1 paper
NM_017565.4
p.H494R
c.1481A>G
4 papers
NM_017565.4
p.H494delFs
c.1480delG
2 papers
NM_017565.4
p.H494_L495insFs
c.1482_1483insAC
5 papers
NM_017565.4
p.H494fs
c.1480_1481fs
1 paper
NM_017565.4
p.H494_L495ins1
c.1482_1483insACA
2 papers
NM_017565.4
p.E492_H494insFs
c.1475_1482dup8
4 papers
NM_017565.4
p.L495fs
c.1483_1484fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."