Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.Y167*

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.Y167*
c.501C>A
Surrounding Variants
1 paper
NM_000117.3
p.Y167F
c.500A>T
3 papers
NM_000117.3
p.R168C
c.502C>T
1 paper
NM_000117.3
p.R168H
c.503G>A
1 paper
NM_000117.3
p.R168P
c.503G>C
1 paper
NM_000117.3
p.H166R
c.497A>G
1 paper
NM_000117.3
p.V170I
c.508G>A
1 paper
NM_000117.3
p.S171A
c.511T>G
3 papers
NM_000117.3
p.S171*
c.512C>A
3 papers
NM_000117.3
p.S171*
c.512C>G
2 papers
NM_000117.3
p.S163fs
c.487_488fs
2 papers
NM_000117.3
p.S163delFs
c.487delA
1 paper
NM_000117.3
p.S173A
c.517T>G
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."