Varaico: Literature-Extracted Genetic Variants

Gene:FAM20C
Variant:p.A526T

FAM20C

188 papers

RefSeq Summary

This gene encodes a member of the family of secreted protein kinases. The encoded protein binds calcium and phosphorylates proteins involved in bone mineralization. Mutations in this gene are associat...

Pfam Domains

Fam20Caa 353–570UCSCGolgi casein kinase, C-terminal, Fam20

Gene Aliases

HGNC Name

FAM20C golgi associated secretory pathway kinase

HGNC Alias Symbols

IMAGE:4942737; DKFZp547D065; DMP4; G-CK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020223.4
p.A526T
c.1576G>A
Surrounding Variants
2 papers
NM_020223.4
p.Y519*
c.1557C>A
2 papers
NM_020223.4
p.Y519*
c.1557C>G
4 papers
NM_020223.4
p.R510C
c.1528C>T
1 paper
NM_020223.4
p.K505delFs
c.1513delA
1 paper
NM_020223.4
p.R504W
c.1510C>T
12 papers
NM_020223.4
p.R549W
c.1645C>T
2 papers
NM_020223.4
p.R551H
c.1652G>A
1 paper
NM_020223.4
p.R551L
c.1652G>T
1 paper
NM_020223.4
p.V552I
c.1654G>A
1 paper
NM_020223.4
p.V553L
c.1657G>C
1 paper
NM_020223.4
p.V553L
c.1657G>T
1 paper
NM_020223.4
p.V553V
c.1659G>T
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."