Varaico: Literature-Extracted Genetic Variants

Gene:MAN1A1

MAN1A1

38 papers

RefSeq Summary

This gene encodes a class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the hydrolysis of three terminal mannose residues from peptide-bound Man(9)...

Pfam Domains

Glyco_hydro_47aa 202–640UCSCGlycosyl hydrolase family 47

Gene Aliases

HGNC Name

mannosidase alpha class 1A member 1

HGNC Previous Name

mannosidase, alpha, class 1A, member 1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 78 variants
1 paper
NM_005907.4
p.M1insFs
c.2_3insC
1 paper
NM_005907.4
p.M1ins10
c.1_2ins30
1 paper
NM_005907.4
p.G5D
c.14G>A
1 paper
NM_005907.4
p.F10insFs
c.28_29ins13
1 paper
NM_005907.4
p.P13L
c.38C>T
1 paper
NM_005907.4
p.G24D
c.71G>A
1 paper
NM_005907.4
p.G27R
c.79G>C
1 paper
NM_005907.4
p.G27S
c.79G>A
1 paper
NM_005907.4
p.R28_K29ins13
c.82_86ins39
1 paper
NM_005907.4
p.L73L
c.217C>T
1 paper
NM_005907.4
p.G91R
c.271G>C
1 paper
NM_005907.4
p.G91R
c.271G>A
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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."