Varaico: Literature-Extracted Genetic Variants

Gene:MAN1B1
Variant:p.H429R

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.H429R
c.1286A>G
Surrounding Variants
4 papers
NM_016219.5
p.I428fs
c.1282_1283fs
1 paper
NM_016219.5
p.L431M
c.1291C>A
3 papers
NM_016219.5
p.I428delFs
c.1282delA
1 paper
NM_016219.5
p.H427fs
c.1279_1280fs
4 papers
NM_016219.5
p.G437delFs
c.1311delG
4 papers
NM_016219.5
p.L438fs
c.1312_1313fs
1 paper
NM_016219.5
p.F442F
c.1326C>T
1 paper
NM_016219.5
p.G459delFs
c.1376delG
1 paper
NM_016219.5
p.G459fs
c.1375_1376fs
1 paper
NM_016219.5
p.A460_Y465delins
c.1378_1394delinsAG
2 papers
NM_016219.5
p.D463N
c.1387G>A
2 papers
NM_016219.5
p.D463A
c.1388A>C
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