Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.S180C

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.S180C
c.539C>G
Surrounding Variants
1 paper
NM_000117.3
p.Y181D
c.541T>G
1 paper
NM_000117.3
p.L179Q
c.536T>A
1 paper
NM_000117.3
p.Y182C
c.545A>G
24 papers
NM_000117.3
p.P183T
c.547C>A
40 papers
NM_000117.3
p.P183H
c.548C>A
1 paper
NM_000117.3
p.P183R
c.548C>G
3 papers
NM_000117.3
p.T184delFs
c.550delA
1 paper
NM_000117.3
p.T184fs
c.550_551fs
3 papers
NM_000117.3
p.S176F
c.527C>T
1 paper
NM_000117.3
p.S175R
c.525C>A
1 paper
NM_000117.3
p.S175R
c.525C>G
1 paper
NM_000117.3
p.S175R
c.523A>C
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