Varaico: Literature-Extracted Genetic Variants

Gene:LEMD2

LEMD2

78 papers

RefSeq Summary

This gene encodes a LEM domain-containing transmembrane protein of the inner nuclear membrane. The protein is involved in nuclear structure organization and plays a role in cell signaling and differen...

Pfam Domains

LEMaa 1–46UCSCLEM domain
LEMaa 1–46UCSCLEM domain
MSCaa 245–495UCSCMan1-Src1p-C-terminal domain

Gene Aliases

HGNC Name

LEM domain nuclear envelope protein 2

HGNC Alias Symbols

dJ482C21.1; NET25; LEM2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
21 papers
NM_181336.4
p.L13R
c.38T>G
6 papers
NM_181336.4
p.S479F
c.1436C>T
3 papers
NM_181336.4
p.S218G
c.652A>G
2 papers
NM_181336.4
p.T26N
c.77C>A
2 papers
NM_181336.4
p.E41K
c.121G>A
2 papers
NM_181336.4
p.A121V
c.362C>T
2 papers
NM_181336.4
p.S237*
c.710C>G
2 papers
NM_181336.4
p.S237*
c.710C>A
1 paper
NM_181336.4
p.M1V
c.1A>G
1 paper
NM_181336.4
p.M1K
c.2T>A
1 paper
NM_181336.4
p.M1I
c.3G>A
1 paper
NM_181336.4
p.S5*
c.14C>A
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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."