Varaico: Literature-Extracted Genetic Variants

Gene:ATE1
Variant:p.I51L

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
Selected Variant
1 paper
NM_001001976.3
p.I51L
c.151A>C
Surrounding Variants
1 paper
NM_001001976.3
p.I51L
c.151A>T
1 paper
NM_001001976.3
p.Y47S
c.140A>C
1 paper
NM_001001976.3
p.R57G
c.169A>G
1 paper
NM_001001976.3
p.R57G
c.169A>G
1 paper
NM_001001976.3
p.V66V
c.198C>T
1 paper
NM_001288736.2
p.C64S
c.190T>A
NM_001001976.3
p.C71S
c.211T>A
1 paper
NM_001288736.2
p.C64S
c.191G>C
NM_001001976.3
p.C71S
c.212G>C
2 papers
NM_001001976.3
p.P73S
c.217C>T
1 paper
NM_001001976.3
p.G36Splc
c.106+1G>A
1 paper
NM_001001976.3
p.S32S
c.96C>T
1 paper
NM_001001976.3
p.G31_S32insFs
c.93_94insC
1 paper
NM_001001976.3
p.G31R
c.91G>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."