Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.L15W

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.L15W
c.44T>G
Surrounding Variants
1 paper
NM_000117.3
p.L15*
c.44T>A
1 paper
NM_000117.3
p.L15F
c.45G>C
1 paper
NM_000117.3
p.L16_R17insFs
c.46_49dup4
2 papers
NM_000117.3
p.L15F
c.45G>T
1 paper
NM_000117.3
p.L16M
c.46C>A
1 paper
NM_000117.3
p.R17G
c.49C>G
1 paper
NM_000117.3
p.T13T
c.39C>T
1 paper
NM_000117.3
p.T13I
c.38C>T
1 paper
NM_000117.3
p.R18W
c.52C>T
1 paper
NM_000117.3
p.L12L
c.36G>A
1 paper
NM_000117.3
p.L12L
c.36G>C
1 paper
NM_000117.3
p.L12P
c.35T>C
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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."