Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

1 paper

NM_004730.4

p.T32S

c.94A>T

Surrounding Variants

4 papers

NM_004730.4

p.T32A

c.94A>G

1 paper

NM_004730.4

p.T32S

c.95C>G

1 paper

NM_004730.4

p.G31G

c.93C>G

1 paper

NM_004730.4

p.G31V

c.92G>T

1 paper

NM_004730.4

p.G31A

c.92G>C

1 paper

NM_004730.4

p.S33C

c.97A>T

1 paper

NM_004730.4

p.N30K

c.90T>G

2 papers

NM_004730.4

p.S33T

c.98G>C

1 paper

NM_004730.4

p.N30D

c.88A>G

1 paper

NM_004730.4

p.G29V

c.86G>T

1 paper

NM_004730.4

p.I35V

c.103A>G

1 paper

NM_004730.4

p.S36T

c.106T>A