Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.S159I

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.S159I
c.476G>T
Surrounding Variants
1 paper
NM_000117.3
p.S159C
c.475A>T
1 paper
NM_000117.3
p.D158Y
c.472G>T
3 papers
NM_000117.3
p.Y161F
c.482A>T
2 papers
NM_000117.3
p.R157Q
c.470G>A
2 papers
NM_000117.3
p.R157W
c.469C>T
1 paper
NM_000117.3
p.R157fs
c.469_470fs
3 papers
NM_000117.3
p.Q162*
c.484C>T
2 papers
NM_000117.3
p.G156S
c.466G>A
1 paper
NM_000117.3
p.G156R
c.466G>C
2 papers
NM_000117.3
p.S163delFs
c.487delA
1 paper
NM_000117.3
p.R157_A160delFs
c.470_480del11
2 papers
NM_000117.3
p.S163fs
c.487_488fs
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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."