Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.Y243S

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.Y243S
c.728A>C
Surrounding Variants
1 paper
NM_000117.3
p.F245Y
c.734T>A
2 papers
NM_000117.3
p.F240L
c.720C>A
2 papers
NM_000117.3
p.F240L
c.720C>G
2 papers
NM_000117.3
p.F240L
c.718T>C
2 papers
NM_000117.3
p.F240fs
c.718_719fs
1 paper
NM_000117.3
p.Q247*
c.739C>T
1 paper
NM_000117.3
p.Q247fs
c.739_740fs
1 paper
NM_000117.3
p.F240_F241delFs
c.718_722del5
1 paper
NM_000117.3
p.L239H
c.716T>A
1 paper
NM_000117.3
p.L239_F240delFs
c.716_720del5
1 paper
NM_000117.3
p.V238I
c.712G>A
2 papers
NM_000117.3
p.V238fs
c.712_713fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."