Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.Y59*

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
4 papers
NM_000117.3
p.Y59*
c.177T>A
Surrounding Variants
4 papers
NM_000117.3
p.Y59*
c.177T>G
3 papers
NM_000117.3
p.Y59C
c.176A>G
2 papers
NM_000117.3
p.Y59F
c.176A>T
1 paper
NM_000117.3
p.S58S
c.174T>A
6 papers
NM_000117.3
p.S58F
c.173C>T
3 papers
NM_000117.3
p.S58_Y59delFs
c.174_175delTT
1 paper
NM_000117.3
p.F61I
c.181T>A
1 paper
NM_000117.3
p.S58A
c.172T>G
1 paper
NM_000117.3
p.S62insFs
c.184dupT
1 paper
NM_000117.3
p.S57S
c.171C>G
1 paper
NM_000117.3
p.F61F
c.183C>T
2 papers
NM_000117.3
p.S57F
c.170C>T
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