Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.S52fs

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.S52fs
c.154_155fs
Surrounding Variants
5 papers
NM_000117.3
p.S52fs
c.154_155fs
1 paper
NM_000117.3
p.S53A
c.157T>G
1 paper
NM_000117.3
p.P50H
c.149C>A
1 paper
NM_000117.3
p.P50T
c.148C>A
1 paper
NM_000117.3
p.P50S
c.148C>T
2 papers
NM_000117.3
p.S54P
c.160T>C
1 paper
NM_000117.3
p.S54A
c.160T>G
1 paper
NM_000117.3
p.S54C
c.161C>G
38 papers
NM_000117.3
p.S54F
c.161C>T
8 papers
NM_000117.3
p.P51_S52insFs
c.153_154insC
8 papers
NM_000117.3
p.P51delFs
c.153delC
1 paper
NM_000117.3
p.S49*
c.146C>A
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