Varaico: Literature-Extracted Genetic Variants

Gene:MAN1A1
Variant:p.D96A

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
Selected Variant
1 paper
NM_005907.4
p.D96A
c.287A>C
Surrounding Variants
1 paper
NM_005907.4
p.A92V
c.275C>T
1 paper
NM_005907.4
p.A92T
c.274G>A
1 paper
NM_005907.4
p.G91R
c.271G>C
1 paper
NM_005907.4
p.G91R
c.271G>A
1 paper
NM_005907.4
p.R103Q
c.308G>A
1 paper
NM_005907.4
p.P110P
c.330C>A
1 paper
NM_005907.4
p.A116T
c.346G>A
1 paper
NM_005907.4
p.L117L
c.349C>T
1 paper
NM_005907.4
p.L73L
c.217C>T
1 paper
NM_005907.4
p.N120S
c.359A>G
1 paper
NM_005907.4
p.I150M
c.450C>G
1 paper
NM_005907.4
p.K156del1
c.466_468delCTT
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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."