Varaico: Literature-Extracted Genetic Variants

Gene:ATE1
Variant:p.C23S

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
2 papers
NM_001001976.3
p.C23S
c.67T>A
Surrounding Variants
2 papers
NM_001001976.3
p.C23S
c.68G>C
1 paper
NM_001001976.3
p.C23Y
c.68G>A
1 paper
NM_001001976.3
p.F20insFs
c.59dupT
1 paper
NM_001001976.3
p.E18V
c.53A>T
1 paper
NM_001001976.3
p.E18K
c.52G>A
1 paper
NM_001001976.3
p.P16L
c.47C>T
1 paper
NM_001001976.3
p.S30A
c.88T>G
1 paper
NM_001001976.3
p.P16S
c.46C>T
1 paper
NM_001001976.3
p.G31R
c.91G>C
1 paper
NM_001001976.3
p.G31_S32insFs
c.93_94insC
1 paper
NM_001001976.3
p.S32S
c.96C>T
1 paper
NM_001001976.3
p.V12L
c.34G>C
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."