Varaico: Literature-Extracted Genetic Variants

Gene:MGAT5B
Variant:p.P210fs

MGAT5B

54 papers

Pfam Domains

Glyco_transf_18aa 184–777UCSCGlycosyltransferase family 18

Gene Aliases

HGNC Name

alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B

HGNC Alias Symbols

GnT-IX; FLJ25132; GnT-VB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001199172.2
p.P210fs
c.628_629fs
Surrounding Variants
1 paper
NM_001199172.2
p.W213R
c.637T>A
1 paper
NM_001199172.2
p.W213R
c.637T>C
1 paper
NM_001199172.2
p.Q230_A231Splc
c.690+2T>G
1 paper
NM_001199172.2
p.S246N
c.737G>A
1 paper
NM_001199172.2
p.R271H
c.812G>A
1 paper
NM_001199172.2
p.Q137E
c.409C>G
1 paper
NM_001199172.2
p.Q126E
c.376C>G
1 paper
NM_001199172.2
p.E119K
c.355G>A
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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."