Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.D6fs

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
7 papers
NM_000117.3
p.D6fs
c.16_17fs
Surrounding Variants
1 paper
NM_000117.3
p.D6N
c.16G>A
1 paper
NM_000117.3
p.D6delFs
c.16delG
1 paper
NM_000117.3
p.A5insFs
c.14_15insT
1 paper
NM_000117.3
p.L7delFs
c.19delC
1 paper
NM_000117.3
p.L7_T14del8
c.19_41del24
1 paper
NM_000117.3
p.S8insFs
c.22_23insT
2 papers
NM_000117.3
p.L7F
c.19C>T
1 paper
NM_000117.3
p.A5T
c.13G>A
1 paper
NM_000117.3
p.Y4*
c.12C>A
1 paper
NM_000117.3
p.Y4*
c.12C>G
1 paper
NM_000117.3
p.L7P
c.20T>C
1 paper
NM_000117.3
p.Y4C
c.11A>G
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