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

9 papers

NM_000528.4

p.P248L

c.743C>T

Surrounding Variants

1 paper

NM_000528.4

p.P248P

c.744G>A

3 papers

NM_000528.4

p.T249T

c.747C>T

3 papers

NM_000528.4

p.A250S

c.748G>T

1 paper

NM_000528.4

p.S242G

c.724A>G

6 papers

NM_000528.4

p.R240Q

c.719G>A

1 paper

NM_000528.4

p.R240W

c.718C>T

1 paper

NM_000528.4

p.V238L

c.712G>C

2 papers

NM_000528.4

p.Q237*

c.709C>T

1 paper

NM_000528.4

p.R229Q

c.686G>A

10 papers

NM_000528.4

p.R229W

c.685C>T

1 paper

NM_000528.4

p.W227*

c.681G>A

1 paper

NM_000528.4

p.W227*

c.680G>A