Varaico: Literature-Extracted Genetic Variants

Gene:ETF1

ETF1

173 papers

RefSeq Summary

This gene encodes a class-1 polypeptide chain release factor. The encoded protein plays an essential role in directing termination of mRNA translation from the termination codons UAA, UAG and UGA. Thi...

Pfam Domains

eRF1_1aa 10–126UCSCeRF1 domain 1
eRF1_1aa 18–140UCSCeRF1 domain 1
eRF1_2aa 145–277UCSCeRF1 domain 2
eRF1_3aa 266–403UCSCeRF1 domain 3

Gene Aliases

HGNC Name

eukaryotic translation termination factor 1

HGNC Previous Symbols

SUP45L1; ERF1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 216 variants
14 papers
NM_004730.4
p.E55D
c.165G>T
14 papers
NM_004730.4
p.E55D
c.165G>C
8 papers
NM_004730.4
p.S70A
c.208T>G
8 papers
NM_004730.4
p.G183A
c.548G>C
7 papers
NM_004730.4
p.L126F
c.378G>T
7 papers
NM_004730.4
p.L126F
c.378G>C
5 papers
NM_004730.4
p.E55A
c.164A>C
5 papers
NM_004730.4
p.Y125F
c.374A>T
4 papers
NM_004730.4
p.T32A
c.94A>G
4 papers
NM_004730.4
p.N61S
c.182A>G
4 papers
NM_004730.4
p.L124M
c.370T>A
4 papers
NM_004730.4
p.C127S
c.379T>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."