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.D746_S747delFs

c.2237_2240del4

Surrounding Variants

2 papers

NM_000528.4

p.G749D

c.2246G>A

1 paper

NM_000528.4

p.D746fs

c.2236_2237fs

39 papers

NM_000528.4

p.R750W

c.2248C>T

5 papers

NM_000528.4

p.T745R

c.2234C>G

2 papers

NM_000528.4

p.R750Q

c.2249G>A

3 papers

NM_000528.4

p.E751*

c.2251G>T

1 paper

NM_000528.4

p.E754K

c.2260G>A

1 paper

NM_000528.4

p.G741R

c.2221G>C

1 paper

NM_000528.4

p.G741R

c.2221G>A

1 paper

NM_000528.4

p.E754delFs

c.2260delC

1 paper

NM_000528.4

p.K740delFs

c.2219delT

2 papers

NM_000528.4

p.R756Splc

c.2267+3G>C