Varaico: Literature-Extracted Genetic Variants

MAN2B1

249 papers

RefSeq Summary

This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released durin...

Pfam Domains

Glyco_hydro_38Naa 62–383UCSCGlycosyl hydrolases family 38 N-terminal domain

Alpha-mann_midaa 386–483UCSCAlpha mannosidase middle domain

Laman-like_domaa 545–580UCSCLysosomal alpha-mannosidase-like, central domain

Glyco_hydro_38Caa 607–823UCSCGlycosyl hydrolases family 38 C-terminal domain

Glyco_hydro38C2aa 899–1000UCSCGlycosyl hydrolases family 38 C-terminal beta sandwich domain

Gene Aliases

HGNC Name

mannosidase alpha class 2B member 1

HGNC Previous Symbol

MANB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_000528.4

p.L78P

c.233T>C

Surrounding Variants

4 papers

NM_000528.4

p.W77*

c.231G>A

4 papers

NM_000528.4

p.W77*

c.230G>A

1 paper

NM_000528.4

p.V81fs

c.241_242fs

1 paper

NM_000528.4

p.V75E

c.224T>A

2 papers

NM_000528.4

p.V81delFs

c.241delC

6 papers

NM_000528.4

p.D74E

c.222C>G

6 papers

NM_000528.4

p.D74E

c.222C>A

1 paper

NM_000528.4

p.D73delFs

c.217_218delTC

1 paper

NM_000528.4

p.H72_D73insFs

c.216_217insA

1 paper

NM_000528.4

p.T71_H72delFs

c.212_215del4

10 papers

NM_000528.4

p.H72L

c.215A>T

1 paper

NM_000528.4

p.H72P

c.215A>C