Varaico: Literature-Extracted Genetic Variants

Gene:ATE1

ATE1

51 papers

RefSeq Summary

This gene encodes an arginyltransferase, an enzyme that is involved in posttranslational conjugation of arginine to N-terminal aspartate or glutamate residues. Conjugation of arginine to the N-termina...

Pfam Domains

ATE_Naa 21–92UCSCArginine-tRNA-protein transferase, N terminus
ATE_Caa 290–429UCSCArginine-tRNA-protein transferase, C terminus

Gene Aliases

HGNC Name

arginyltransferase 1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 104 variants
2 papers
NM_001001976.3
p.C23S
c.67T>A
2 papers
NM_001001976.3
p.C23S
c.68G>C
2 papers
NM_001001976.3
p.P73S
c.217C>T
2 papers
NM_001001976.3
p.L101L
c.303A>G
2 papers
NM_001001976.3
p.R386Q
c.1157G>A
2 papers
NM_001001976.3
p.Y403C
c.1208A>G
2 papers
NM_001001976.3
p.S412S
c.1236A>G
2 papers
NM_001001976.3
p.P457P
c.1371A>C
1 paper
NM_001288736.2
p.M1L
c.1A>T
1 paper
NM_001288736.2
p.M1L
c.1A>C
1 paper
NM_001288736.2
p.K8E
c.22A>G
1 paper
NM_001288736.2
p.G9D
c.26G>A
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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."