Varaico: Literature-Extracted Genetic Variants

Gene:LMAN2
Variant:p.R218C

LMAN2

38 papers

RefSeq Summary

This gene encodes a type I transmembrane lectin that shuttles between the endoplasmic reticulum, the Golgi apparatus and the plasma membrane. The encoded protein binds high mannose type glycoproteins ...

Pfam Domains

Lectin_leg-likeaa 52–278UCSCLegume-like lectin family

Gene Aliases

HGNC Name

lectin, mannose binding 2

HGNC Previous Symbol

C5orf8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006816.3
p.R218C
c.652C>T
Surrounding Variants
1 paper
NM_006816.3
p.D212N
c.634G>A
1 paper
NM_006816.3
p.D210N
c.628G>A
1 paper
NM_006816.3
p.V181M
c.541G>A
1 paper
NM_006816.3
p.V226L
c.676G>T
1 paper
NM_006816.3
p.V226L
c.676G>C
1 paper
NM_006816.3
p.K237Q
c.709A>C
1 paper
NM_006816.3
p.G254R
c.760G>C
1 paper
NM_006816.3
p.G254R
c.760G>A
1 paper
NM_006816.3
p.D261G
c.782A>G
1 paper
NM_006816.3
p.E171K
c.511G>A
1 paper
NM_006816.3
p.P165P
c.495C>T
1 paper
NM_006816.3
p.A158D
c.473C>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."