Varaico: Literature-Extracted Genetic Variants

Gene:PELI1

PELI1

37 papers

Pfam Domains

Pellino_FHAaa 8–271UCSCPellino, FHA domain
Pellino_RINGaa 275–418UCSCPellino, RING domain

Gene Aliases

HGNC Name

pellino E3 ubiquitin protein ligase 1

HGNC Previous Names

pellino (Drosophila) homolog 1; pellino homolog 1 (Drosophila)

Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
2 papers
NM_020651.4
p.A270V
c.809C>T
1 paper
NM_020651.4
p.M1L
c.1A>T
1 paper
NM_020651.4
p.Q6K
c.16C>A
1 paper
NM_020651.4
p.E19*
c.55G>T
1 paper
NM_020651.4
p.G35R
c.103G>C
1 paper
NM_020651.4
p.L43M
c.127T>A
1 paper
NM_020651.4
p.P47fs
c.139_140fs
1 paper
NM_020651.4
p.V57E
c.170T>A
1 paper
NM_020651.4
p.K67insFs
c.200_201ins4
1 paper
NM_020651.4
p.D94A
c.281A>C
1 paper
NM_020651.4
p.M99V
c.295A>G
1 paper
NM_020651.4
p.G103C
c.307G>T
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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."