Varaico: Literature-Extracted Genetic Variants

Gene:LMAN1
Variant:p.L453I

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.L453I
c.1357T>A
Surrounding Variants
4 papers
NM_005570.4
p.N452delFs
c.1356delG
7 papers
NM_005570.4
p.R456*
c.1366C>T
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
1 paper
NM_005570.4
p.Q434K
c.1300C>A
1 paper
NM_005570.4
p.Y430*
c.1290T>G
1 paper
NM_005570.4
p.Y430*
c.1290T>A
1 paper
NM_005570.4
p.G427A
c.1280G>C
3 papers
NM_005570.4
p.G424delFs
c.1271delC
2 papers
NM_005570.4
p.Q421insFs
c.1261_1262insTG
1 paper
NM_005570.4
p.R415I
c.1244G>T
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