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

9 papers

NM_000528.4

p.R140*

c.418C>T

Surrounding Variants

1 paper

NM_000528.4

p.R140R

c.418C>A

1 paper

NM_000528.4

p.D141fs

c.421_422fs

2 papers

NM_000528.4

p.D141delFs

c.422delT

1 paper

NM_000528.4

p.T135T

c.405A>G

1 paper

NM_000528.4

p.N133K

c.399T>G

1 paper

NM_000528.4

p.N133K

c.399T>A

2 papers

NM_000528.4

p.Q130H

c.390G>C

1 paper

NM_000528.4

p.Q130*

c.388C>T

1 paper

NM_000528.4

p.W128*

c.384G>A

1 paper

NM_000528.4

p.W128*

c.383G>A

1 paper

NM_000528.4

p.R126H

c.377G>A

1 paper

NM_000528.4

p.R126C

c.376C>T