Varaico: Literature-Extracted Genetic Variants

Gene:LEMD2
Variant:p.S237*

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
2 papers
NM_181336.4
p.S237*
c.710C>A
Surrounding Variants
2 papers
NM_181336.4
p.S237*
c.710C>G
1 paper
NM_181336.4
p.L214_L219delFs
c.640_656del17
3 papers
NM_181336.4
p.S218G
c.652A>G
1 paper
NM_181336.4
p.R208insFs
c.622_623ins5
1 paper
NM_181336.4
p.R208H
c.623G>A
1 paper
NM_181336.4
p.E201K
c.601G>A
1 paper
NM_181336.4
p.L172P
c.515T>C
1 paper
NM_181336.4
p.A158P
c.472G>C
1 paper
NM_181336.4
p.L157F
c.469C>T
1 paper
NM_181336.4
p.Y122D
c.364T>G
2 papers
NM_181336.4
p.A121V
c.362C>T
1 paper
NM_181336.4
p.D106N
c.316G>A
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