Varaico: Literature-Extracted Genetic Variants

SMG7

103 papers

RefSeq Summary

This gene encodes a protein that is essential for nonsense-mediated mRNA decay (NMD); a process whereby transcripts with premature termination codons are targeted for rapid degradation by a mRNA decay...

Pfam Domains

EST1aa 55–169UCSCTelomerase activating protein Est1

EST1_DNA_bindaa 171–431UCSCEst1 DNA/RNA binding domain

Gene Aliases

HGNC Name

SMG7 nonsense mediated mRNA decay factor

HGNC Alias Symbols

KIAA0250; EST1C; SGA56M; SMG-7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001375584.1

p.M1I

c.3G>C

Surrounding Variants

1 paper

NM_001375584.1

p.M1I

c.3G>A

1 paper

NM_001375584.1

p.M1I

c.3G>T

1 paper

NM_001375584.1

p.Y8N

c.22T>A