Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.T10insFs

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.T10insFs
c.28_29insA
Surrounding Variants
2 papers
NM_000117.3
p.D9A
c.26A>C
2 papers
NM_000117.3
p.T10fs
c.28_29fs
2 papers
NM_000117.3
p.T10I
c.29C>T
3 papers
NM_000117.3
p.D9N
c.25G>A
2 papers
NM_000117.3
p.D9H
c.25G>C
2 papers
NM_000117.3
p.D9fs
c.25_26fs
3 papers
NM_000117.3
p.D9_T13delFs
c.26_39del14
1 paper
NM_000117.3
p.T10T
c.30C>T
1 paper
NM_000117.3
p.E11delFs
c.31delG
2 papers
NM_000117.3
p.D9insFs
c.25dupG
2 papers
NM_000117.3
p.S8W
c.23C>G
2 papers
NM_000117.3
p.S8L
c.23C>T
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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."