Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.L48L

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.L48L
c.144C>T
Surrounding Variants
2 papers
NM_000117.3
p.S49A
c.145T>G
1 paper
NM_000117.3
p.L48insFs
c.144dupC
1 paper
NM_000117.3
p.S49fs
c.145_146fs
1 paper
NM_000117.3
p.S49*
c.146C>A
8 papers
NM_000117.3
p.P51_S52insFs
c.153_154insC
8 papers
NM_000117.3
p.P51delFs
c.153delC
1 paper
NM_000117.3
p.P50T
c.148C>A
1 paper
NM_000117.3
p.P50S
c.148C>T
1 paper
NM_000117.3
p.P50H
c.149C>A
1 paper
NM_000117.3
p.R47delFs
c.141delG
1 paper
NM_000117.3
p.R46fs
c.136_137fs
1 paper
NM_000117.3
p.S52fs
c.154_155fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."