Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.G89Splc

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
3 papers
NM_000117.3
p.G89Splc
c.266-2A>G
Surrounding Variants
1 paper
NM_000117.3
p.G89_R103delFs
c.266_309del44
6 papers
NM_000117.3
p.G89Splc
c.266-3A>G
1 paper
NM_000117.3
p.G89_R103delFs
c.266_308del43
2 papers
NM_000117.3
p.G89V
c.266G>T
1 paper
NM_000117.3
p.Y90fs
c.268_269fs
2 papers
NM_000117.3
p.N91D
c.271A>G
1 paper
NM_000117.3
p.N91Y
c.271A>T
2 papers
NM_000117.3
p.N91S
c.272A>G
1 paper
NM_000117.3
p.D92_Y94del3
c.274_281del9
1 paper
NM_000117.3
p.D92N
c.274G>A
1 paper
NM_000117.3
p.D92G
c.275A>G
1 paper
NM_000117.3
p.D93A
c.278A>C
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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."