Varaico: Literature-Extracted Genetic Variants

Gene:LMAN1
Variant:p.D313D

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.D313D
c.939C>T
Surrounding Variants
1 paper
NM_005570.4
p.D313N
c.937G>A
1 paper
NM_005570.4
p.P312L
c.935C>T
7 papers
NM_005570.4
p.Q317*
c.949C>T
1 paper
NM_005570.4
p.Q317P
c.950A>C
1 paper
NM_005570.4
p.Q317Q
c.951G>A
1 paper
NM_005570.4
p.P318L
c.953C>T
1 paper
NM_005570.4
p.K309*
c.925A>T
3 papers
NM_005570.4
p.E305fs
c.913_914fs
12 papers
NM_005570.4
p.E305insFs
c.913_914insA
9 papers
NM_005570.4
p.K304delFs
c.912delT
5 papers
NM_005570.4
p.E305fs
c.913_914fs
1 paper
NM_005570.4
p.K304fs
c.910_911fs
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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."