Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.V26A

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
5 papers
NM_000117.3
p.V26A
c.77T>C
Surrounding Variants
2 papers
NM_000117.3
p.V27I
c.79G>A
1 paper
NM_000117.3
p.P25R
c.74C>G
1 paper
NM_000117.3
p.P25L
c.74C>T
2 papers
NM_000117.3
p.P25A
c.73C>G
1 paper
NM_000117.3
p.G28R
c.82G>A
1 paper
NM_000117.3
p.G28R
c.82G>C
1 paper
NM_000117.3
p.P25del1
c.73_74delCCT
1 paper
NM_000117.3
p.G24E
c.71G>A
1 paper
NM_000117.3
p.G28Splc
c.82+1G>A
1 paper
NM_000117.3
p.G28A
c.83G>C
2 papers
NM_000117.3
p.G28Splc
c.82+1G>T
1 paper
NM_000117.3
p.G28Splc
c.82+5G>C
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."