Varaico: Literature-Extracted Genetic Variants

Gene:LMAN2
Variant:p.S100insFs

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
1 paper
NM_006816.3
p.S100insFs
c.298_299ins4
Surrounding Variants
1 paper
NM_006816.3
p.H104delFs
c.310_311delTG
1 paper
NM_006816.3
p.Q105_P106insFs
c.315_316ins4
1 paper
NM_006816.3
p.L74F
c.220C>T
1 paper
NM_006816.3
p.I61F
c.181A>T
1 paper
NM_006816.3
p.E57D
c.171G>T
1 paper
NM_006816.3
p.E57D
c.171G>C
1 paper
NM_006816.3
p.H53Y
c.157C>T
1 paper
NM_006816.3
p.L23L
c.69C>T
1 paper
NM_006816.3
p.R9L
c.26G>T
1 paper
NM_006816.3
p.A3T
c.7G>A
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