Varaico: Literature-Extracted Genetic Variants

Gene:LMAN1L

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
1–12 of 36 variants
1 paper
NM_021819.3
p.L18del1
c.52_53delCTG
1 paper
NM_021819.3
p.E24E
c.72G>A
1 paper
NM_021819.3
p.G41D
c.122G>A
1 paper
NM_021819.3
p.P47fs
c.139_140fs
1 paper
NM_021819.3
p.E65D
c.195G>C
1 paper
NM_021819.3
p.E65D
c.195G>T
1 paper
NM_021819.3
p.M73T
c.218T>C
1 paper
NM_021819.3
p.G106E
c.317G>A
1 paper
NM_021819.3
p.G106G
c.318A>T
1 paper
NM_021819.3
p.M110_A111Splc
c.331-6C>T
1 paper
NM_021819.3
p.A150T
c.448G>A
1 paper
NM_021819.3
p.I151V
c.451A>G
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