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.R598I

c.1793G>T

Surrounding Variants

1 paper

NM_000528.4

p.R599I

c.1796G>T

1 paper

NM_000528.4

p.W601C

c.1803G>T

1 paper

NM_000528.4

p.W601C

c.1803G>C

1 paper

NM_000528.4

p.R591H

c.1772G>A

3 papers

NM_000528.4

p.T606delFs

c.1816delT

10 papers

NM_000528.4

p.E610_H611Splc

c.1830+1G>C

2 papers

NM_000528.4

p.E610_H611Splc

c.1830+1G>A

1 paper

NM_000528.4

p.S579*

c.1736C>G

1 paper

NM_000528.4

p.S579*

c.1736C>A

2 papers

NM_000528.4

p.S579insFs

c.1735_1736insA

4 papers

NM_000528.4

p.L565P

c.1694T>C

4 papers

NM_000528.4

p.E563*

c.1687G>T