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

1–12 of 492 variants

39 papers

NM_000528.4

p.R750W

c.2248C>T

17 papers

NM_000528.4

p.L809P

c.2426T>C

12 papers

NM_000528.4

p.R337Q

c.1010G>A

11 papers

NM_000528.4

p.L278V

c.832C>G

11 papers

NM_000528.4

p.P669L

c.2006C>T

10 papers

NM_000528.4

p.H72L

c.215A>T

10 papers

NM_000528.4

p.H200L

c.599A>T

10 papers

NM_000528.4

p.R229W

c.685C>T

10 papers

NM_000528.4

p.E610_H611Splc

c.1830+1G>C

9 papers

NM_000528.4

p.R140*

c.418C>T

9 papers

NM_000528.4

p.H200N

c.598C>A

9 papers

NM_000528.4

p.P248L

c.743C>T