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

4 papers

NM_004730.4

p.L124M

c.370T>A

Surrounding Variants

5 papers

NM_004730.4

p.Y125F

c.374A>T

1 paper

NM_004730.4

p.Y125S

c.374A>C

1 paper

NM_004730.4

p.L126V

c.376T>G

1 paper

NM_004730.4

p.L126M

c.376T>A

1 paper

NM_004730.4

p.L126S

c.377T>C

7 papers

NM_004730.4

p.L126F

c.378G>T

7 papers

NM_004730.4

p.L126F

c.378G>C

1 paper

NM_004730.4

p.C127R

c.379T>C

4 papers

NM_004730.4

p.C127S

c.379T>A

1 paper

NM_004730.4

p.I120M

c.360T>G

4 papers

NM_004730.4

p.C127S

c.380G>C

1 paper

NM_004730.4

p.C127Y

c.380G>A