Varaico: Literature-Extracted Genetic Variants

Gene:LEMD3

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
1–12 of 178 variants
7 papers
NM_014319.5
p.Y441*
c.1323C>A
7 papers
NM_014319.5
p.R625*
c.1873C>T
6 papers
NM_014319.5
p.E601*
c.1801G>T
5 papers
NM_014319.5
p.Y441*
c.1323C>G
5 papers
NM_014319.5
p.R655*
c.1963C>T
5 papers
NM_014319.5
p.R735*
c.2203C>T
4 papers
NM_014319.5
p.S111insFs
c.332_333insTC
4 papers
NM_014319.5
p.Q153*
c.457C>T
4 papers
NM_014319.5
p.K277insFs
c.830dupA
4 papers
NM_014319.5
p.K277*
c.829A>T
4 papers
NM_014319.5
p.R332_N333insTC
c.994_998ins6
4 papers
NM_014319.5
p.G395insFs
c.1185dupT
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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."