Varaico: Literature-Extracted Genetic Variants

Gene:LMAN1
Variant:p.L469fs

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.L469fs
c.1405_1406fs
Surrounding Variants
1 paper
NM_005570.4
p.L469_P470insFs
c.1407_1408ins5
1 paper
NM_005570.4
p.L469insFs
c.1406_1407ins40
1 paper
NM_005570.4
p.P470fs
c.1408_1409fs
11 papers
NM_005570.4
p.C475R
c.1423T>C
1 paper
NM_005570.4
p.P459T
c.1375C>A
4 papers
NM_005570.4
p.K507delFs
c.1519delT
7 papers
NM_005570.4
p.R456*
c.1366C>T
1 paper
NM_005570.4
p.L453I
c.1357T>A
4 papers
NM_005570.4
p.N452delFs
c.1356delG
1 paper
NM_005570.4
p.H442Y
c.1324C>T
1 paper
NM_005570.4
p.D438N
c.1312G>A
1 paper
NM_005570.4
p.H435N
c.1303C>A
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