Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.W200R

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.W200R
c.598T>A
Surrounding Variants
2 papers
NM_000117.3
p.W200R
c.598T>C
2 papers
NM_000117.3
p.W200_R204del0
c.598_612del15
3 papers
NM_000117.3
p.W200*
c.599G>A
1 paper
NM_000117.3
p.W200_R204delFs
c.600_610del11
1 paper
NM_000117.3
p.S199*
c.596C>A
1 paper
NM_000117.3
p.S199*
c.596C>G
3 papers
NM_000117.3
p.W200*
c.600G>A
1 paper
NM_000117.3
p.L201F
c.601C>T
1 paper
NM_000117.3
p.L201fs
c.601_602fs
2 papers
NM_000117.3
p.T202_R203insFs
c.605_608dup4
1 paper
NM_000117.3
p.T202P
c.604A>C
3 papers
NM_000117.3
p.R203delFs
c.607delC
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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."