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.V110I

c.328G>A

Surrounding Variants

1 paper

NM_004730.4

p.V110A

c.329T>C

1 paper

NM_004730.4

p.I112T

c.335T>C

2 papers

NM_004730.4

p.E107A

c.320A>C

1 paper

NM_004730.4

p.E107Q

c.319G>C

2 papers

NM_004730.4

p.E107K

c.319G>A

1 paper

NM_004730.4

p.D113G

c.338A>G

1 paper

NM_004730.4

p.F114Y

c.341T>A

1 paper

NM_004730.4

p.G105G

c.315A>T

2 papers

NM_004730.4

p.E104K

c.310G>A

1 paper

NM_004730.4

p.P116L

c.347C>T

1 paper

NM_004730.4

p.V101A

c.302T>C

1 paper

NM_004730.4

p.F117_P119delins

c.350_356delinsATGC