Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.Q228H

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.Q228H
c.684G>T
Surrounding Variants
1 paper
NM_000117.3
p.Q228H
c.684G>C
2 papers
NM_000117.3
p.Q228*
c.682C>T
1 paper
NM_000117.3
p.L229P
c.686T>C
1 paper
NM_000117.3
p.L230M
c.688C>A
1 paper
NM_000117.3
p.G227A
c.680G>C
7 papers
NM_000117.3
p.W226*
c.678G>A
17 papers
NM_000117.3
p.W226*
c.677G>A
1 paper
NM_000117.3
p.W226S
c.677G>C
1 paper
NM_000117.3
p.G227delFs
c.680delG
1 paper
NM_000117.3
p.L225L
c.675C>T
1 paper
NM_000117.3
p.F232I
c.694T>A
1 paper
NM_000117.3
p.F232L
c.694T>C
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