Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.P108L

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
2 papers
NM_000117.3
p.P108L
c.323C>T
Surrounding Variants
1 paper
NM_000117.3
p.P108S
c.322C>T
1 paper
NM_000117.3
p.E109K
c.325G>A
2 papers
NM_000117.3
p.E107D
c.321G>C
2 papers
NM_000117.3
p.E107D
c.321G>T
1 paper
NM_000117.3
p.E109*
c.325G>T
1 paper
NM_000117.3
p.S110_G112del3
c.328_335del9
1 paper
NM_000117.3
p.G106_E107insFs
c.318_319insT
5 papers
NM_000117.3
p.Y105*
c.315T>A
1 paper
NM_000117.3
p.Y105Y
c.315T>C
5 papers
NM_000117.3
p.Y105*
c.315T>G
1 paper
NM_000117.3
p.Y105S
c.314A>C
1 paper
NM_000117.3
p.Y105C
c.314A>G
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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."