Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.S114P

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.S114P
c.340T>C
Surrounding Variants
1 paper
NM_000117.3
p.A116P
c.346G>C
1 paper
NM_000117.3
p.G112C
c.334G>T
1 paper
NM_000117.3
p.G112del1
c.334_336delGGC
1 paper
NM_000117.3
p.V117I
c.349G>A
1 paper
NM_000117.3
p.V117delFs
c.350delT
1 paper
NM_000117.3
p.R118G
c.352C>G
1 paper
NM_000117.3
p.R118C
c.352C>T
3 papers
NM_000117.3
p.R118H
c.353G>A
1 paper
NM_000117.3
p.S110_G112del3
c.328_335del9
3 papers
NM_000117.3
p.S120_V121delFs
c.359_362del4
1 paper
NM_000117.3
p.E109K
c.325G>A
1 paper
NM_000117.3
p.E109*
c.325G>T
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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."