Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.R157Q

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
2 papers
NM_000117.3
p.R157Q
c.470G>A
Surrounding Variants
2 papers
NM_000117.3
p.R157W
c.469C>T
1 paper
NM_000117.3
p.R157fs
c.469_470fs
1 paper
NM_000117.3
p.D158Y
c.472G>T
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
1 paper
NM_000117.3
p.S159C
c.475A>T
1 paper
NM_000117.3
p.S159I
c.476G>T
1 paper
NM_000117.3
p.M154T
c.461T>C
1 paper
NM_000117.3
p.M154_Y155insFs
c.461_465dup5
1 paper
NM_000117.3
p.M154V
c.460A>G
3 papers
NM_000117.3
p.Y161F
c.482A>T
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."