Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.N20S

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
3 papers
NM_000117.3
p.N20S
c.59A>G
Surrounding Variants
1 paper
NM_000117.3
p.N20delFs
c.60delC
1 paper
NM_000117.3
p.N20fs
c.58_59fs
1 paper
NM_000117.3
p.Y19*
c.57C>A
1 paper
NM_000117.3
p.Y19*
c.57C>G
1 paper
NM_000117.3
p.N20_P22del3
c.58_65del9
2 papers
NM_000117.3
p.Y19F
c.56A>T
1 paper
NM_000117.3
p.P22Q
c.65C>A
3 papers
NM_000117.3
p.P22L
c.65C>T
1 paper
NM_000117.3
p.R18W
c.52C>T
1 paper
NM_000117.3
p.P22P
c.66G>A
1 paper
NM_000117.3
p.R17G
c.49C>G
1 paper
NM_000117.3
p.G24E
c.71G>A
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