Varaico: Literature-Extracted Genetic Variants

Gene:LMAN1
Variant:p.L123_A124Splc

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.L123_A124Splc
c.369+3A>G
Surrounding Variants
2 papers
NM_005570.4
p.L123_A124Splc
c.369+5G>A
1 paper
NM_005570.4
p.L123_A124Splc
c.369+1G>A
1 paper
NM_005570.4
p.G119E
c.356G>A
1 paper
NM_005570.4
p.R117R
c.351A>G
2 papers
NM_005570.4
p.R117Q
c.350G>A
1 paper
NM_005570.4
p.R117*
c.349C>T
5 papers
NM_005570.4
p.G114*
c.340G>T
1 paper
NM_005570.4
p.G114R
c.340G>C
1 paper
NM_005570.4
p.G114R
c.340G>A
2 papers
NM_005570.4
p.R111Q
c.332G>A
1 paper
NM_005570.4
p.F110delFs
c.330delA
1 paper
NM_005570.4
p.E105G
c.314A>G
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