Varaico: Literature-Extracted Genetic Variants

Gene:FAM20B
Variant:p.R290H

FAM20B

36 papers

Pfam Domains

Fam20Caa 187–399UCSCGolgi casein kinase, C-terminal, Fam20

Gene Aliases

HGNC Name

FAM20B glycosaminoglycan xylosylkinase

HGNC Alias Symbols

KIAA0475; GXK1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_014864.4
p.R290H
c.869G>A
Surrounding Variants
1 paper
NM_014864.4
p.R290C
c.868C>T
1 paper
NM_014864.4
p.D289A
c.866A>C
1 paper
NM_014864.4
p.S295R
c.883A>C
1 paper
NM_014864.4
p.S295R
c.885C>A
1 paper
NM_014864.4
p.S295R
c.885C>G
1 paper
NM_014864.4
p.S303delFs
c.907_908delAG
1 paper
NM_014864.4
p.L305L
c.915C>A
1 paper
NM_014864.4
p.D309H
c.925G>C
2 papers
NM_014864.4
p.D309A
c.926A>C
1 paper
NM_014864.4
p.D309G
c.926A>G
1 paper
NM_014864.4
p.R271H
c.812G>A
1 paper
NM_014864.4
p.K312R
c.935A>G
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