Varaico: Literature-Extracted Genetic Variants

Gene:LMAN1
Variant:p.R14W

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.R14W
c.40C>T
Surrounding Variants
3 papers
NM_005570.4
p.R14Q
c.41G>A
1 paper
NM_005570.4
p.P15Q
c.44C>A
3 papers
NM_005570.4
p.R12insFs
c.34_35ins4
1 paper
NM_005570.4
p.R12insFs
c.34_35insC
2 papers
NM_005570.4
p.L16R
c.47T>G
1 paper
NM_005570.4
p.L16P
c.47T>C
3 papers
NM_005570.4
p.A11_R12insFs
c.33_34ins4
1 paper
NM_005570.4
p.L16L
c.48G>A
4 papers
NM_005570.4
p.A11delFs
c.31delC
2 papers
NM_005570.4
p.L16del1
c.46_47delCAG
1 paper
NM_005570.4
p.F17insFs
c.50_51insC
1 paper
NM_005570.4
p.L9delFs
c.26delA
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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."