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

5 papers

NM_004730.4

p.E55A

c.164A>C

Surrounding Variants

14 papers

NM_004730.4

p.E55D

c.165G>T

14 papers

NM_004730.4

p.E55D

c.165G>C

3 papers

NM_004730.4

p.E55Q

c.163G>C

1 paper

NM_004730.4

p.F56V

c.166T>G

1 paper

NM_004730.4

p.D54G

c.161A>G

1 paper

NM_004730.4

p.A53A

c.159G>A

1 paper

NM_004730.4

p.L52F

c.156A>T

1 paper

NM_004730.4

p.L52S

c.155T>C

1 paper

NM_004730.4

p.T58T

c.174T>A

1 paper

NM_004730.4

p.A59S

c.175G>T

1 paper

NM_004730.4

p.A59T

c.175G>A

3 papers

NM_004730.4

p.M51R

c.152T>G