Varaico: Literature-Extracted Genetic Variants

Gene:MAN1B1
Variant:p.S409P

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
7 papers
NM_016219.5
p.S409P
c.1225T>C
Surrounding Variants
3 papers
NM_016219.5
p.R410H
c.1229G>A
1 paper
NM_016219.5
p.R406W
c.1216C>T
1 paper
NM_016219.5
p.E404K
c.1210G>A
1 paper
NM_016219.5
p.K415delFs
c.1243delA
9 papers
NM_016219.5
p.E397K
c.1189G>A
1 paper
NM_016219.5
p.T390_E397del0
c.1168_1191del24
1 paper
NM_016219.5
p.R388_L403delFs
c.1164_1207del44
1 paper
NM_016219.5
p.P386L
c.1157C>T
1 paper
NM_016219.5
p.T381_A384del4
c.1141_1151del12
1 paper
NM_016219.5
p.P373R
c.1118C>G
1 paper
NM_016219.5
p.P373L
c.1118C>T
1 paper
NM_016219.5
p.S370A
c.1108T>G
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