Varaico: Literature-Extracted Genetic Variants

Gene:MAN1B1
Variant:p.Y343C

MAN1B1

160 papers

RefSeq Summary

This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc ...

Pfam Domains

Glyco_hydro_47aa 256–695UCSCGlycosyl hydrolase family 47

Gene Aliases

HGNC Name

mannosidase alpha class 1B member 1

HGNC Alias Symbols

MANA-ER; MRT15; ERManI; ERMan1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016219.5
p.Y343C
c.1028A>G
Surrounding Variants
1 paper
NM_016219.5
p.L339F
c.1015C>T
1 paper
NM_016219.5
p.L339fs
c.1015_1016fs
1 paper
NM_016219.5
p.D348E
c.1044C>A
1 paper
NM_016219.5
p.D348E
c.1044C>G
1 paper
NM_016219.5
p.G337R
c.1009G>A
1 paper
NM_016219.5
p.G337R
c.1009G>C
1 paper
NM_016219.5
p.L336insFs
c.1008dupG
1 paper
NM_016219.5
p.L336fs
c.1006_1007fs
5 papers
NM_016219.5
p.R334P
c.1001G>C
23 papers
NM_016219.5
p.R334C
c.1000C>T
1 paper
NM_016219.5
p.A355_E356Splc
c.1065+1G>C
2 papers
NM_016219.5
p.E330A
c.989A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."