Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.K36Q

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.K36Q
c.106A>C
Surrounding Variants
2 papers
NM_000117.3
p.K36*
c.106A>T
1 paper
NM_000117.3
p.E35A
c.104A>C
3 papers
NM_000117.3
p.E35K
c.103G>A
8 papers
NM_000117.3
p.K37_I38del1
c.110_112delAGA
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
1 paper
NM_000117.3
p.Y34F
c.101A>T
1 paper
NM_000117.3
p.I38L
c.112A>C
1 paper
NM_000117.3
p.F39del1
c.115_116delTTC
1 paper
NM_000117.3
p.Y34N
c.100T>A
2 papers
NM_000117.3
p.Y34insFs
c.101dupA
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