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.Q342_Q343Splc

c.1026+1G>A

Surrounding Variants

4 papers

NM_000528.4

p.Q342_Q343Splc

c.1026+2T>G

1 paper

NM_000528.4

p.V339_Q342del0

c.1015_1026del12

1 paper

NM_000528.4

p.A341V

c.1022C>T

12 papers

NM_000528.4

p.R337Q

c.1010G>A

1 paper

NM_000528.4

p.L332P

c.995T>C

1 paper

NM_000528.4

p.K330R

c.989A>G

1 paper

NM_000528.4

p.W328R

c.982T>C

1 paper

NM_000528.4

p.W328R

c.982T>A

1 paper

NM_000528.4

p.Q342_Q343Splc

c.1026+50C>T

1 paper

NM_000528.4

p.E323K

c.967G>A

1 paper

NM_000528.4

p.Y322delFs

c.965_966delAT

1 paper

NM_000528.4

p.Y322F

c.965A>T