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.Q80K

c.238C>A

Surrounding Variants

2 papers

NM_004730.4

p.Q80E

c.238C>G

1 paper

NM_004730.4

p.Q79E

c.235C>G

3 papers

NM_004730.4

p.Q79K

c.235C>A

2 papers

NM_004730.4

p.V78A

c.233T>C

1 paper

NM_004730.4

p.S77F

c.230C>T

1 paper

NM_004730.4

p.K83R

c.248A>G

1 paper

NM_004730.4

p.K83N

c.249A>T

1 paper

NM_004730.4

p.K83N

c.249A>C

1 paper

NM_004730.4

p.T76A

c.226A>G

1 paper

NM_004730.4

p.V88I

c.262G>A

1 paper

NM_004730.4

p.V71A

c.212T>C

1 paper

NM_004730.4

p.V71F

c.211G>T