Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.F39del1

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.F39del1
c.115_116delTTC
Surrounding Variants
1 paper
NM_000117.3
p.I38L
c.112A>C
2 papers
NM_000117.3
p.F39_L48delFs
c.116_143del28
1 paper
NM_000117.3
p.I38M
c.114C>G
1 paper
NM_000117.3
p.F39fs
c.115_116fs
1 paper
NM_000117.3
p.E40_P50delFs
c.118_148del31
1 paper
NM_000117.3
p.F39L
c.117C>A
1 paper
NM_000117.3
p.K36Q
c.106A>C
2 papers
NM_000117.3
p.K36*
c.106A>T
1 paper
NM_000117.3
p.E40*
c.118G>T
1 paper
NM_000117.3
p.E35A
c.104A>C
3 papers
NM_000117.3
p.E35K
c.103G>A
8 papers
NM_000117.3
p.K37_I38del1
c.110_112delAGA
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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."