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.P285P

c.855C>T

Surrounding Variants

2 papers

NM_000528.4

p.E286K

c.856G>A

1 paper

NM_000528.4

p.S284C

c.850A>T

1 paper

NM_000528.4

p.Y287*

c.861C>G

1 paper

NM_000528.4

p.Y287*

c.861C>A

9 papers

NM_000528.4

p.P282S

c.844C>T

1 paper

NM_000528.4

p.D281H

c.841G>C

11 papers

NM_000528.4

p.L278V

c.832C>G

1 paper

NM_000528.4

p.P277_L278delins

c.830_832delinsTGG

2 papers

NM_000528.4

p.P277L

c.830C>T

1 paper

NM_000528.4

p.V271insFs

c.812_813dupTG

1 paper

NM_000528.4

p.D270insFs

c.809dupA

1 paper

NM_000528.4

p.W269*

c.807G>A