Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.R46fs

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.R46fs
c.136_137fs
Surrounding Variants
1 paper
NM_000117.3
p.R45insFs
c.135dupG
1 paper
NM_000117.3
p.R45fs
c.133_134fs
1 paper
NM_000117.3
p.R47delFs
c.141delG
1 paper
NM_000117.3
p.Q44H
c.132G>C
2 papers
NM_000117.3
p.R45insFs
c.133dupA
1 paper
NM_000117.3
p.Q44P
c.131A>C
8 papers
NM_000117.3
p.Q44*
c.130C>T
1 paper
NM_000117.3
p.L48insFs
c.144dupC
1 paper
NM_000117.3
p.T43I
c.128C>T
1 paper
NM_000117.3
p.L48L
c.144C>T
2 papers
NM_000117.3
p.S49A
c.145T>G
1 paper
NM_000117.3
p.S49fs
c.145_146fs
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