Varaico: Literature-Extracted Genetic Variants

Gene:MGAT5B
Variant:p.D393N

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
2 papers
NM_001199172.2
p.D393N
c.1177G>A
Surrounding Variants
1 paper
NM_001199172.2
p.F395F
c.1185C>T
1 paper
NM_001199172.2
p.T408M
c.1223C>T
1 paper
NM_001199172.2
p.R413Q
c.1238G>A
1 paper
NM_001199172.2
p.P423L
c.1268C>T
1 paper
NM_001199172.2
p.H369N
c.1105C>A
1 paper
NM_001199172.2
p.D435fs
c.1303_1304fs
1 paper
NM_001199172.2
p.F441F
c.1323C>T
1 paper
NM_001199172.2
p.T449M
c.1346C>T
1 paper
NM_001199172.2
p.R452Q
c.1355G>A
1 paper
NM_001199172.2
p.K474_L475Splc
c.1422+9G>C
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