Varaico: Literature-Extracted Genetic Variants

Gene:LEMD2
Variant:p.A322V

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
Selected Variant
1 paper
NM_181336.4
p.A322V
c.965C>T
Surrounding Variants
1 paper
NM_181336.4
p.S329S
c.987C>T
1 paper
NM_181336.4
p.W337Splc
c.1010+62G>A
1 paper
NM_181336.4
p.P301L
c.902C>T
1 paper
NM_181336.4
p.P301S
c.901C>T
1 paper
NM_181336.4
p.P292insFs
c.874_875insA
1 paper
NM_181336.4
p.K352R
c.1055A>G
1 paper
NM_181336.4
p.C355C
c.1065C>T
1 paper
NM_181336.4
p.R402*
c.1204C>T
1 paper
NM_181336.4
p.E406E
c.1218G>A
1 paper
NM_181336.4
p.P451S
c.1351C>T
1 paper
NM_181336.4
p.Y277H
c.829T>C
1 paper
NM_181336.4
p.E259_F260Splc
c.778-12G>T
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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."