Varaico: Literature-Extracted Genetic Variants

Gene:FAM20A
Variant:p.I300S

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.I300S
c.899T>G
Surrounding Variants
1 paper
NM_017565.4
p.E299G
c.896A>G
1 paper
NM_017565.4
p.E299insFs
c.896_897insT
3 papers
NM_017565.4
p.S303fs
c.907_908fs
2 papers
NM_017565.4
p.S303fs
c.907_908fs
4 papers
NM_017565.4
p.S303delFs
c.907_908delCT
1 paper
NM_017565.4
p.V304I
c.910G>A
7 papers
NM_017565.4
p.F305fs
c.913_914fs
2 papers
NM_017565.4
p.F305fs
c.913_914fs
1 paper
NM_017565.4
p.F305L
c.915C>A
3 papers
NM_017565.4
p.F305delFs
c.913_914delAA
1 paper
NM_017565.4
p.I292_L293del2
c.874_878del6
11 papers
NM_017565.4
p.F305_F306delFs
c.915_918del4
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."