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

1 paper

NM_000528.4

p.D196E

c.588C>A

Surrounding Variants

1 paper

NM_000528.4

p.D196E

c.588C>G

1 paper

NM_000528.4

p.P197S

c.589C>T

1 paper

NM_000528.4

p.D196N

c.586G>A

4 papers

NM_000528.4

p.P197R

c.590C>G

2 papers

NM_000528.4

p.F198F

c.594C>T

1 paper

NM_000528.4

p.G199C

c.595G>T

1 paper

NM_000528.4

p.G199S

c.595G>A

1 paper

NM_000528.4

p.W193*

c.579G>A

2 papers

NM_000528.4

p.G199G

c.597C>A

1 paper

NM_000528.4

p.W193*

c.578G>A

9 papers

NM_000528.4

p.H200N

c.598C>A

10 papers

NM_000528.4

p.H200L

c.599A>T