Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.P253S

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.P253S
c.757C>T
Surrounding Variants
4 papers
NM_000117.3
p.P253_F254insT
c.757_761ins3
2 papers
NM_000117.3
p.P253A
c.757C>G
1 paper
NM_000117.3
p.F254L
c.760T>C
1 paper
NM_000117.3
p.F254L
c.762C>A
1 paper
NM_000117.3
p.F254L
c.762C>G
1 paper
NM_000117.3
p.G251A
c.752G>C
1 paper
NM_000117.3
p.G251fs
c.751_752fs
1 paper
NM_000117.3
p.*255Q
c.763T>C
1 paper
NM_000117.3
p.G251delFs
c.752delG
3 papers
NM_000117.3
p.G251_*255del5
c.751_764del15
1 paper
NM_000117.3
p.E250A
c.749A>C
1 paper
NM_000117.3
p.E250K
c.748G>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."