Varaico: Literature-Extracted Genetic Variants

Gene:EVPLL

EVPLL

17 papers

Pfam Domains

Spectrin_1st_PEPLaa 1–93UCSCPeriplakin spectrin-like repeat

Gene Aliases

HGNC Name

envoplakin like

Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
3 papers
NM_001145127.2
p.W209*
c.627G>A
2 papers
NM_001145127.2
p.A5T
c.13G>A
2 papers
NM_001145127.2
p.H127Y
c.379C>T
2 papers
NM_001145127.2
p.W209*
c.626G>A
1 paper
NM_001145127.2
p.S4N
c.11G>A
1 paper
NM_001145127.2
p.A5P
c.13G>C
1 paper
NM_001145127.2
p.R10Q
c.29G>A
1 paper
NM_001145127.2
p.I74I
c.222C>T
1 paper
NM_001145127.2
p.R101C
c.301C>T
1 paper
NM_001145127.2
p.G132R
c.394G>A
1 paper
NM_001145127.2
p.G132R
c.394G>C
1 paper
NM_001145127.2
p.V175A
c.524T>C
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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."