Varaico: Literature-Extracted Genetic Variants

Gene:LMAN1L
Variant:p.W280*

LMAN1L

32 papers

RefSeq Summary

This gene encodes a mannose-binding type 1 transmembrane protein that contains an N-terminal lectin-like carbohydrate recognition domain. The encoded protein is similar in structure to lectins found i...

Pfam Domains

Lectin_leg-likeaa 31–254UCSCLegume-like lectin family

Gene Aliases

HGNC Name

lectin, mannose binding 1 like

HGNC Alias Symbols

ERGL; ERGIC-53L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021819.3
p.W280*
c.840G>A
Surrounding Variants
1 paper
NM_021819.3
p.W280*
c.839G>A
1 paper
NM_021819.3
p.E298*
c.892G>T
1 paper
NM_021819.3
p.Q300P
c.899A>C
1 paper
NM_021819.3
p.Q300R
c.899A>G
1 paper
NM_021819.3
p.G301*
c.901G>T
1 paper
NM_021819.3
p.D308fs
c.922_923fs
1 paper
NM_021819.3
p.R318W
c.952C>T
1 paper
NM_021819.3
p.R318Q
c.953G>A
1 paper
NM_021819.3
p.E258D
c.774G>C
1 paper
NM_021819.3
p.E258D
c.774G>T
1 paper
NM_021819.3
p.D241fs
c.721_722fs
1 paper
NM_021819.3
p.D240insFs
c.719_720insCC
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