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

17 papers

NM_000528.4

p.L809P

c.2426T>C

Surrounding Variants

1 paper

NM_000528.4

p.R805_D806delFs

c.2414_2417del4

3 papers

NM_000528.4

p.M812_V813Splc

c.2436+1G>A

1 paper

NM_000528.4

p.R805fs

c.2413_2414fs

1 paper

NM_000528.4

p.M812_V813Splc

c.2436+5G>A

1 paper

NM_001173498.2

p.S802fs

c.2404_2405fs

1 paper

NM_001173498.2

p.S802fs

c.2404_2405fs

1 paper

NM_001173498.2

p.S801insFs

c.2402dupG

2 papers

NM_000528.4

p.S802fs

c.2404_2405fs

5 papers

NM_000528.4

p.S802fs

c.2404_2405fs

2 papers

NM_000528.4

p.S802G

c.2404A>G

9 papers

NM_000528.4

p.G801insFs

c.2402dupG

2 papers

NM_000528.4

p.G801delFs

c.2402delC