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.E28G

c.83A>G

Surrounding Variants

1 paper

NM_001375584.1

p.S22A

c.64T>G

1 paper

NM_001375584.1

p.M43I

c.129G>A

1 paper

NM_001375584.1

p.M43I

c.129G>C

1 paper

NM_001375584.1

p.M43I

c.129G>T

1 paper

NM_001375584.1

p.V45L

c.133G>C

4 papers

NM_001375584.1

p.K66E

c.196A>G

1 paper

NM_001375584.1

p.K66M

c.197A>T

1 paper

NM_001375584.1

p.T70A

c.208A>G

3 papers

NM_001375584.1

p.K77E

c.229A>G

1 paper

NM_001375584.1

p.R84R

c.252G>C

1 paper

NM_001375584.1

p.S85N

c.254G>A

1 paper

NM_001375584.1

p.A89delFs

c.265_266delGC