Varaico: Literature-Extracted Genetic Variants

Gene:LEMD3
Variant:p.A627V

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.A627V
c.1880C>T
Surrounding Variants
7 papers
NM_014319.5
p.R625*
c.1873C>T
1 paper
NM_014319.5
p.W621*
c.1863G>A
1 paper
NM_014319.5
p.W621*
c.1862G>A
3 papers
NM_014319.5
p.L638fs
c.1912_1913fs
4 papers
NM_014319.5
p.L638*
c.1913T>A
3 papers
NM_014319.5
p.L638*
c.1913T>G
3 papers
NM_014319.5
p.L638insFs
c.1914dupA
1 paper
NM_014319.5
p.L640*
c.1919T>G
1 paper
NM_001167614.2
p.G640Splc
c.1918+1G>C
1 paper
NM_014319.5
p.G641Splc
c.1921+1G>T
1 paper
NM_014319.5
p.L611*
c.1832T>A
1 paper
NM_014319.5
p.L611*
c.1832T>G
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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."