Varaico: Literature-Extracted Genetic Variants

Gene:LMAN1
Variant:p.Y289C

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.Y289C
c.866A>G
Surrounding Variants
1 paper
NM_005570.4
p.E287Q
c.859G>C
1 paper
NM_005570.4
p.E285V
c.854A>T
1 paper
NM_005570.4
p.S282L
c.845C>T
4 papers
NM_005570.4
p.I281delFs
c.841delT
1 paper
NM_005570.4
p.I281fs
c.841_842fs
14 papers
NM_005570.4
p.K302*
c.904A>T
1 paper
NM_005570.4
p.K302fs
c.904_905fs
5 papers
NM_005570.4
p.P274_P275Splc
c.823-1G>C
2 papers
NM_005570.4
p.P274_P275Splc
c.823-1G>A
1 paper
NM_005570.4
p.K304fs
c.910_911fs
12 papers
NM_005570.4
p.E305insFs
c.913_914insA
9 papers
NM_005570.4
p.K304delFs
c.912delT
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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."