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

1–12 of 129 variants

4 papers

NM_001375584.1

p.K66E

c.196A>G

3 papers

NM_001375584.1

p.K77E

c.229A>G

3 papers

NM_001375584.1

p.K132E

c.394A>G

2 papers

NM_001375584.1

p.R309H

c.926G>A

2 papers

NM_001375584.1

p.G519R

c.1555G>A

2 papers

NM_001375584.1

p.G519R

c.1555G>C

2 papers

NM_001375584.1

p.P717S

c.2149C>T

2 papers

NM_001375584.1

p.P819A

c.2455C>G

2 papers

NM_001375584.1

p.M849insFs

c.2545dupA

1 paper

NM_001375584.1

p.M1I

c.3G>A

1 paper

NM_001375584.1

p.M1I

c.3G>C

1 paper

NM_001375584.1

p.M1I

c.3G>T