Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.Q133_V134Splc

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.Q133_V134Splc
c.399+1G>T
Surrounding Variants
1 paper
NM_000117.3
p.Q133_V134Splc
c.399+1G>A
3 papers
NM_000117.3
p.Q133_V134Splc
c.399+1G>C
28 papers
NM_000117.3
p.Q133H
c.399G>C
28 papers
NM_000117.3
p.Q133H
c.399G>T
1 paper
NM_000117.3
p.Q133delFs
c.399delG
2 papers
NM_000117.3
p.Q133*
c.397C>T
1 paper
NM_000117.3
p.H132Q
c.396C>A
1 paper
NM_000117.3
p.H132Q
c.396C>G
1 paper
NM_000117.3
p.F130C
c.389T>G
1 paper
NM_000117.3
p.A129V
c.386C>T
2 papers
NM_000117.3
p.A129T
c.385G>A
1 paper
NM_000117.3
p.A129delFs
c.386delC
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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."