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.N651_S653del3

c.1951_1958del9

Surrounding Variants

1 paper

NM_000528.4

p.Q655fs

c.1963_1964fs

1 paper

NM_000528.4

p.Q655delFs

c.1963delG

1 paper

NM_000528.4

p.G658D

c.1973G>A

1 paper

NM_000528.4

p.A646T

c.1936G>A

1 paper

NM_000528.4

p.S657_I661del5

c.1969_1982del15

1 paper

NM_000528.4

p.Y644Y

c.1932C>T

3 papers

NM_000528.4

p.W643*

c.1929G>A

1 paper

NM_000528.4

p.W643Splc

c.1929-1G>T

3 papers

NM_000528.4

p.W643*

c.1928G>A

3 papers

NM_000528.4

p.W643Splc

c.1929-2A>G

11 papers

NM_000528.4

p.P669L

c.2006C>T

1 paper

NM_000528.4

p.P671delFs

c.2013delA