Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.R32W

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.R32W
c.94A>T
Surrounding Variants
1 paper
NM_000117.3
p.R32K
c.95G>A
1 paper
NM_000117.3
p.R31_R32del1
c.92_94delGTA
1 paper
NM_000117.3
p.L33H
c.98T>A
1 paper
NM_000117.3
p.L33L
c.99T>A
1 paper
NM_000117.3
p.Y34N
c.100T>A
2 papers
NM_000117.3
p.Y34insFs
c.101dupA
1 paper
NM_000117.3
p.Y34F
c.101A>T
2 papers
NM_000117.3
p.Y34*
c.102C>A
2 papers
NM_000117.3
p.Y34*
c.102C>G
1 paper
NM_000117.3
p.E35_K36del2
c.103_107del6
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."