Varaico: Literature-Extracted Genetic Variants

Gene:MAN1B1
Variant:p.W473*

MAN1B1

160 papers

RefSeq Summary

This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc ...

Pfam Domains

Glyco_hydro_47aa 256–695UCSCGlycosyl hydrolase family 47

Gene Aliases

HGNC Name

mannosidase alpha class 1B member 1

HGNC Alias Symbols

MANA-ER; MRT15; ERManI; ERMan1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_016219.5
p.W473*
c.1418G>A
Surrounding Variants
7 papers
NM_016219.5
p.W473*
c.1419G>A
1 paper
NM_016219.5
p.Q475*
c.1423C>T
1 paper
NM_016219.5
p.L470V
c.1408C>G
2 papers
NM_016219.5
p.G477R
c.1429G>A
2 papers
NM_016219.5
p.G477R
c.1429G>C
1 paper
NM_016219.5
p.Y465Fs
c.1394delinsAGFs
1 paper
NM_016219.5
p.S464N
c.1391G>A
2 papers
NM_016219.5
p.D463A
c.1388A>C
2 papers
NM_016219.5
p.D463N
c.1387G>A
1 paper
NM_016219.5
p.A460_Y465delins
c.1378_1394delinsAG
1 paper
NM_016219.5
p.G459fs
c.1375_1376fs
1 paper
NM_016219.5
p.G459delFs
c.1376delG
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