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.R114S

c.340C>A

Surrounding Variants

1 paper

NM_000528.4

p.R114C

c.340C>T

1 paper

NM_000528.4

p.Y118Y

c.354C>T

1 paper

NM_000528.4

p.Y118*

c.354C>G

1 paper

NM_000528.4

p.Y118*

c.354C>A

2 papers

NM_000528.4

p.L108insFs

c.323_324insA

1 paper

NM_000528.4

p.F123V

c.367T>G

1 paper

NM_000528.4

p.F123delFs

c.368delA

1 paper

NM_000528.4

p.S103delFs

c.308delG

1 paper

NM_000528.4

p.S103L

c.308C>T

1 paper

NM_000528.4

p.S103fs

c.307_308fs

4 papers

NM_000528.4

p.D102N

c.304G>A

1 paper

NM_000528.4

p.R126C

c.376C>T