Varaico: Literature-Extracted Genetic Variants

Gene:LMAN1
Variant:p.Q266H

LMAN1

171 papers

RefSeq Summary

The protein encoded by this gene is a membrane mannose-specific lectin that cycles between the endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment, and cis-Golgi, functioning a...

Pfam Domains

Lectin_leg-likeaa 44–269UCSCLegume-like lectin family

Gene Aliases

HGNC Name

lectin, mannose binding 1

HGNC Previous Symbol

F5F8D

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005570.4
p.Q266H
c.798G>C
Surrounding Variants
1 paper
NM_005570.4
p.Q266H
c.798G>T
3 papers
NM_005570.4
p.F265delFs
c.795delG
1 paper
NM_005570.4
p.L267L
c.801G>A
1 paper
NM_005570.4
p.T264I
c.791C>T
1 paper
NM_005570.4
p.T264insFs
c.790dupA
1 paper
NM_005570.4
p.T264fs
c.790_791fs
1 paper
NM_005570.4
p.L263L
c.789G>T
4 papers
NM_005570.4
p.S261delFs
c.781delA
2 papers
NM_005570.4
p.K272fs
c.814_815fs
8 papers
NM_005570.4
p.P274P
c.822G>A
4 papers
NM_005570.4
p.P274_P275Splc
c.822+1G>A
2 papers
NM_005570.4
p.D255E
c.765T>G
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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."