Varaico: Literature-Extracted Genetic Variants

Gene:DELE1
Variant:p.F128L

DELE1

38 papers

Pfam Domains

Sel1aa 240–276UCSCSel1 repeat
Sel1aa 277–312UCSCSel1 repeat
Sel1aa 313–350UCSCSel1 repeat
Sel1aa 385–420UCSCSel1 repeat

Gene Aliases

HGNC Name

DAP3 binding cell death enhancer 1

HGNC Previous Symbol

KIAA0141

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_014773.5
p.F128L
c.382T>C
Surrounding Variants
2 papers
NM_014773.5
p.F128L
c.384C>A
2 papers
NM_014773.5
p.F128L
c.384C>G
1 paper
NM_014773.5
p.D125N
c.373G>A
1 paper
NM_014773.5
p.R100G
c.298A>G
1 paper
NM_014773.5
p.V93M
c.277G>A
1 paper
NM_014773.5
p.R140Q
c.419G>A
1 paper
NM_014773.5
p.Q141fs
c.421_422fs
1 paper
NM_014773.5
p.Q141_H142delFs
c.423_424delAC
1 paper
NM_014773.5
p.E230G
c.689A>G
1 paper
NM_014773.5
p.S235P
c.703T>C
1 paper
NM_014773.5
p.S245C
c.734C>G
2 papers
NM_014773.5
p.A247T
c.739G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."