Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.R207P

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.R207P
c.620G>C
Surrounding Variants
1 paper
NM_000117.3
p.R207delFs
c.621delG
2 papers
NM_000117.3
p.R207fs
c.619_620fs
1 paper
NM_000117.3
p.R207R
c.621G>T
1 paper
NM_000117.3
p.P208fs
c.622_623fs
1 paper
NM_000117.3
p.P208L
c.623C>T
4 papers
NM_000117.3
p.I206delFs
c.618delC
1 paper
NM_000117.3
p.P208P
c.624T>G
1 paper
NM_000117.3
p.N210T
c.629A>C
3 papers
NM_000117.3
p.R211delFs
c.631delC
1 paper
NM_000117.3
p.R204H
c.611G>A
2 papers
NM_000117.3
p.N210K
c.630C>A
2 papers
NM_000117.3
p.N210K
c.630C>G
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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."