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.Q185K

c.553C>A

Surrounding Variants

1 paper

NM_004730.4

p.Q185E

c.553C>G

1 paper

NM_004730.4

p.G184A

c.551G>C

1 paper

NM_004730.4

p.S186T

c.556T>A

1 paper

NM_004730.4

p.G184S

c.550G>A

8 papers

NM_004730.4

p.G183A

c.548G>C

2 papers

NM_004730.4

p.G183R

c.547G>C

2 papers

NM_004730.4

p.G183R

c.547G>A

1 paper

NM_004730.4

p.R182G

c.544A>G

1 paper

NM_004730.4

p.G181S

c.541G>A

2 papers

NM_004730.4

p.R192C

c.574C>T

1 paper

NM_004730.4

p.R192H

c.575G>A

3 papers

NM_004730.4

p.R192R

c.576T>C