Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.S54A

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.S54A
c.160T>G
Surrounding Variants
2 papers
NM_000117.3
p.S54P
c.160T>C
1 paper
NM_000117.3
p.S54C
c.161C>G
38 papers
NM_000117.3
p.S54F
c.161C>T
2 papers
NM_000117.3
p.A55T
c.163G>A
2 papers
NM_000117.3
p.A55delFs
c.165delC
1 paper
NM_000117.3
p.S53A
c.157T>G
1 paper
NM_000117.3
p.A55A
c.165C>A
1 paper
NM_000117.3
p.S52fs
c.154_155fs
5 papers
NM_000117.3
p.S52fs
c.154_155fs
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.A56D
c.167C>A
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