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

3 papers

NM_004730.4

p.K63R

c.188A>G

Surrounding Variants

1 paper

NM_004730.4

p.K63M

c.188A>T

1 paper

NM_004730.4

p.K63E

c.187A>G

2 papers

NM_004730.4

p.K63Q

c.187A>C

3 papers

NM_004730.4

p.I62M

c.186T>G

2 papers

NM_004730.4

p.S64A

c.190T>G

2 papers

NM_004730.4

p.S64T

c.190T>A

1 paper

NM_004730.4

p.I62N

c.185T>A

2 papers

NM_004730.4

p.I62V

c.184A>G

1 paper

NM_004730.4

p.R65*

c.193C>T

1 paper

NM_004730.4

p.N61K

c.183C>G

1 paper

NM_004730.4

p.N61K

c.183C>A

4 papers

NM_004730.4

p.N61S

c.182A>G