Varaico: Literature-Extracted Genetic Variants

Gene:LMAN1
Variant:p.Y48*

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.Y48*
c.144C>A
Surrounding Variants
1 paper
NM_005570.4
p.Y48*
c.144C>G
1 paper
NM_005570.4
p.Y50insFs
c.149dupA
1 paper
NM_005570.4
p.S51fs
c.151_152fs
1 paper
NM_005570.4
p.G54R
c.160G>A
3 papers
NM_005570.4
p.V39A
c.116T>C
1 paper
NM_005570.4
p.L57insFs
c.171dupG
1 paper
NM_005570.4
p.Q59*
c.175C>T
1 paper
NM_005570.4
p.A38V
c.113C>T
1 paper
NM_005570.4
p.D61N
c.181G>A
1 paper
NM_005570.4
p.D36G
c.107A>G
1 paper
NM_005570.4
p.D36Y
c.106G>T
1 paper
NM_005570.4
p.D61E
c.183C>G
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