Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.K91T

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.K91T
c.272A>C
Surrounding Variants
1 paper
NM_017565.4
p.S90S
c.270C>T
1 paper
NM_017565.4
p.S90F
c.269C>T
1 paper
NM_017565.4
p.S88L
c.263C>T
1 paper
NM_017565.4
p.S86G
c.256A>G
1 paper
NM_017565.4
p.H98delFs
c.292_293delTG
6 papers
NM_017565.4
p.R73*
c.217C>T
1 paper
NM_017565.4
p.L110_E113ins1
c.330_338dup9
7 papers
NM_017565.4
p.L117fs
c.349_350fs
1 paper
NM_017565.4
p.D63delFs
c.189delG
2 papers
NM_017565.4
p.D63insFs
c.188dupA
1 paper
NM_017565.4
p.D63N
c.187G>A
2 papers
NM_017565.4
p.D63fs
c.187_188fs
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."