Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.V236M

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.V236M
c.706G>A
Surrounding Variants
1 paper
NM_000117.3
p.V236_F241del6
c.706_722del18
1 paper
NM_000117.3
p.F235S
c.704T>C
1 paper
NM_000117.3
p.I237M
c.711C>G
2 papers
NM_000117.3
p.V238_L239delFs
c.712_716del5
1 paper
NM_000117.3
p.V238I
c.712G>A
2 papers
NM_000117.3
p.V238fs
c.712_713fs
1 paper
NM_000117.3
p.L233L
c.699G>C
1 paper
NM_000117.3
p.L239_F240delFs
c.716_720del5
1 paper
NM_000117.3
p.L233P
c.698T>C
1 paper
NM_000117.3
p.L239H
c.716T>A
1 paper
NM_000117.3
p.F240_F241delFs
c.718_722del5
1 paper
NM_000117.3
p.F232I
c.694T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."