Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.S57fs

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.S57fs
c.169_170fs
Surrounding Variants
2 papers
NM_000117.3
p.S57F
c.170C>T
1 paper
NM_000117.3
p.A56D
c.167C>A
1 paper
NM_000117.3
p.S57S
c.171C>G
2 papers
NM_000117.3
p.A56V
c.167C>T
2 papers
NM_000117.3
p.A56T
c.166G>A
1 paper
NM_000117.3
p.A56fs
c.166_167fs
1 paper
NM_000117.3
p.S58A
c.172T>G
1 paper
NM_000117.3
p.A55A
c.165C>A
6 papers
NM_000117.3
p.S58F
c.173C>T
3 papers
NM_000117.3
p.S58_Y59delFs
c.174_175delTT
1 paper
NM_000117.3
p.S58S
c.174T>A
2 papers
NM_000117.3
p.A55T
c.163G>A
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