Varaico: Literature-Extracted Genetic Variants

Gene:MAN1B1
Variant:p.V256L

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
1 paper
NM_016219.5
p.V256L
c.766G>C
Surrounding Variants
1 paper
NM_016219.5
p.D255H
c.763G>C
1 paper
NM_016219.5
p.F257S
c.770T>C
2 papers
NM_016219.5
p.L258_H259delFs
c.772_775del4
5 papers
NM_016219.5
p.I254fs
c.760_761fs
2 papers
NM_016219.5
p.L258fs
c.772_773fs
4 papers
NM_016219.5
p.I254_D255delFs
c.761_764del4
1 paper
NM_016219.5
p.K251_G252del1
c.752_754delAGG
1 paper
NM_016219.5
p.W261*
c.782G>A
1 paper
NM_016219.5
p.R249H
c.746G>A
1 paper
NM_016219.5
p.R265C
c.793C>T
1 paper
NM_016219.5
p.V244Splc
c.731-8C>T
1 paper
NM_016219.5
p.G286D
c.857G>A
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