Varaico: Literature-Extracted Genetic Variants

Gene:LEMD3
Variant:p.E460D

LEMD3

145 papers

RefSeq Summary

This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encodin...

Pfam Domains

LEMaa 8–54UCSCLEM domain
MSCaa 520–750UCSCMan1-Src1p-C-terminal domain

Gene Aliases

HGNC Name

LEM domain containing 3

HGNC Alias Symbol

MAN1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014319.5
p.E460D
c.1380G>T
Surrounding Variants
1 paper
NM_014319.5
p.E460D
c.1380G>C
1 paper
NM_014319.5
p.L454L
c.1362C>T
1 paper
NM_014319.5
p.E450E
c.1350A>G
2 papers
NM_014319.5
p.L478*
c.1433T>A
2 papers
NM_014319.5
p.L478*
c.1433T>G
7 papers
NM_014319.5
p.Y441*
c.1323C>A
5 papers
NM_014319.5
p.Y441*
c.1323C>G
1 paper
NM_014319.5
p.L488P
c.1463T>C
1 paper
NM_014319.5
p.G489*
c.1465G>T
1 paper
NM_014319.5
p.G489V
c.1466G>T
1 paper
NM_014319.5
p.I508Splc
c.1522+1G>A
1 paper
NM_014319.5
p.I508Splc
c.1522+1G>C
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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."