Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.S58A

EMD

912 papers

RefSeq Summary

Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is ...

Pfam Domains

LEMaa 3–49UCSCLEM domain

Gene Aliases

HGNC Name

emerin

HGNC Alias Symbols

STA; LEMD5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000117.3
p.S58A
c.172T>G
Surrounding Variants
1 paper
NM_000117.3
p.S57S
c.171C>G
6 papers
NM_000117.3
p.S58F
c.173C>T
3 papers
NM_000117.3
p.S58_Y59delFs
c.174_175delTT
2 papers
NM_000117.3
p.S57F
c.170C>T
1 paper
NM_000117.3
p.S58S
c.174T>A
1 paper
NM_000117.3
p.S57fs
c.169_170fs
3 papers
NM_000117.3
p.Y59C
c.176A>G
2 papers
NM_000117.3
p.Y59F
c.176A>T
1 paper
NM_000117.3
p.A56D
c.167C>A
2 papers
NM_000117.3
p.A56V
c.167C>T
4 papers
NM_000117.3
p.Y59*
c.177T>A
4 papers
NM_000117.3
p.Y59*
c.177T>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."