Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.M191V

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.M191V
c.571A>G
Surrounding Variants
1 paper
NM_000117.3
p.M191delFs
c.572delT
1 paper
NM_000117.3
p.M191T
c.572T>C
1 paper
NM_000117.3
p.F190fs
c.568_569fs
1 paper
NM_000117.3
p.S192C
c.575C>G
1 paper
NM_000117.3
p.S192F
c.575C>T
2 papers
NM_000117.3
p.F190delFs
c.569_570delTT
1 paper
NM_000117.3
p.S189fs
c.565_566fs
1 paper
NM_000117.3
p.S193C
c.578C>G
1 paper
NM_000117.3
p.T188_S189delFs
c.564_565delCT
1 paper
NM_000117.3
p.T188P
c.562A>C
1 paper
NM_000117.3
p.T188A
c.562A>G
1 paper
NM_000117.3
p.S194fs
c.580_581fs
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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."