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.T312I

c.935C>T

Surrounding Variants

1 paper

NM_000528.4

p.R308C

c.922C>T

5 papers

NM_000528.4

p.S318L

c.953C>T

1 paper

NM_000528.4

p.Y306fs

c.916_917fs

2 papers

NM_000528.4

p.D319G

c.956A>G

1 paper

NM_000528.4

p.R305W

c.913C>T

1 paper

NM_000528.4

p.R305insFs

c.913_914ins4

2 papers

NM_000528.4

p.F320L

c.958T>C

1 paper

NM_000528.4

p.G304_R305insFs

c.912_913ins4

1 paper

NM_000528.4

p.G304R

c.910G>C

2 papers

NM_000528.4

p.F320L

c.960C>G

2 papers

NM_000528.4

p.F320L

c.960C>A

1 paper

NM_000528.4

p.Q303_G304Splc

c.910-1G>A