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.A151T

c.451G>A

Surrounding Variants

3 papers

NM_000528.4

p.A151P

c.451G>C

3 papers

NM_000528.4

p.N152S

c.455A>G

1 paper

NM_000528.4

p.E149V

c.446A>T

5 papers

NM_000528.4

p.G153V

c.458G>T

1 paper

NM_000528.4

p.G146insFs

c.438dupG

1 paper

NM_000528.4

p.R147fs

c.439_440fs

2 papers

NM_000528.4

p.G146Splc

c.437-1G>A

1 paper

NM_000528.4

p.N158N

c.474C>T

4 papers

NM_000528.4

p.D159N

c.475G>A

1 paper

NM_000528.4

p.E160K

c.478G>A

1 paper

NM_000528.4

p.T163fs

c.487_488fs

2 papers

NM_000528.4

p.A162_T163insFs

c.484_487dup4