Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.R271Splc

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
6 papers
NM_017565.4
p.R271Splc
c.813-2A>G
Surrounding Variants
1 paper
NM_017565.4
p.R271M
c.812G>T
1 paper
NM_017565.4
p.I272V
c.814A>G
9 papers
NM_017565.4
p.R276*
c.826C>T
2 papers
NM_017565.4
p.V278fs
c.832_833fs
2 papers
NM_017565.4
p.V278_P279Fs
c.832_835delinsTGTCCGACGGTGTCCGACGGTGTCFs
1 paper
NM_017565.4
p.V278_P279Fs
c.832_835delinsTGTCCFs
1 paper
NM_017565.4
p.V278_P279Fs
c.832_835delinsTGTCCGACGGTGTCCGACGGTGTCCAFs
1 paper
NM_017565.4
p.R284S
c.852G>T
1 paper
NM_017565.4
p.R284S
c.852G>C
1 paper
NM_017565.4
p.I292_L293del2
c.874_878del6
1 paper
NM_017565.4
p.E299G
c.896A>G
1 paper
NM_017565.4
p.E299insFs
c.896_897insT
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."