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

8 papers

NM_004730.4

p.S70A

c.208T>G

Surrounding Variants

2 papers

NM_004730.4

p.S70T

c.208T>A

1 paper

NM_004730.4

p.S70L

c.209C>T

1 paper

NM_004730.4

p.V71F

c.211G>T

1 paper

NM_004730.4

p.V71L

c.211G>C

1 paper

NM_004730.4

p.V71A

c.212T>C

2 papers

NM_004730.4

p.R68L

c.203G>T

1 paper

NM_004730.4

p.N67D

c.199A>G

1 paper

NM_004730.4

p.V66A

c.197T>C

1 paper

NM_004730.4

p.I62_R65delFs

c.185_195del11

1 paper

NM_004730.4

p.R65*

c.193C>T

2 papers

NM_004730.4

p.S64A

c.190T>G

2 papers

NM_004730.4

p.S64T

c.190T>A