Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.P153L

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.P153L
c.458C>T
Surrounding Variants
3 papers
NM_000117.3
p.P153_M154insC
c.457_461ins3
1 paper
NM_000117.3
p.M154_Y155insFs
c.461_465dup5
1 paper
NM_000117.3
p.M154V
c.460A>G
1 paper
NM_000117.3
p.R152H
c.455G>A
1 paper
NM_000117.3
p.M154T
c.461T>C
5 papers
NM_000117.3
p.R152C
c.454C>T
1 paper
NM_000117.3
p.E151fs
c.451_452fs
2 papers
NM_000117.3
p.G156S
c.466G>A
1 paper
NM_000117.3
p.G156R
c.466G>C
1 paper
NM_000117.3
p.R157_A160delFs
c.470_480del11
6 papers
NM_000117.3
p.R150_E151insFs
c.450_451insG
5 papers
NM_000117.3
p.R150Splc
c.450-2A>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."