Varaico: Literature-Extracted Genetic Variants

Gene:APELA
Variant:p.R43insFs

APELA

41 papers

RefSeq Summary

This gene encodes a peptide hormone that binds to the Apelin receptor. The encoded protein is required for heart development in zebrafish and has been shown to maintain self-renewal of human embryonic...

Pfam Domains

Toddleraa 1–54UCSCApelin receptor early endogenous ligand

Gene Aliases

HGNC Name

apelin receptor early endogenous ligand

HGNC Alias Symbols

Ende; ELA; tdl

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001297550.2
p.R43insFs
c.129dupA
Surrounding Variants
1 paper
NM_001297550.2
p.S49*
c.146C>A
1 paper
NM_001297550.2
p.S49*
c.146C>G
1 paper
NM_001297550.2
p.F53F
c.159T>C
1 paper
NM_001297550.2
p.K33insFs
c.98_99insA
1 paper
NM_001297550.2
p.L17H
c.50T>A
1 paper
NM_001297550.2
p.S16C
c.46A>T
1 paper
NM_001297550.2
p.I12F
c.34A>T
1 paper
NM_001297550.2
p.M1R
c.2T>G
1 paper
NM_001297550.2
p.M1V
c.1A>G
1 paper
NM_001297550.2
p.M1delFs
c.2delT
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