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

2 papers

NM_001375584.1

p.R309H

c.926G>A

Surrounding Variants

1 paper

NM_001375584.1

p.V297A

c.890T>C

1 paper

NM_001375584.1

p.V297G

c.890T>G

1 paper

NM_001375584.1

p.W328R

c.982T>A

1 paper

NM_001375584.1

p.W328R

c.982T>C

1 paper

NM_001375584.1

p.L334F

c.1000C>T

1 paper

NM_001375584.1

p.L284V

c.850C>G

1 paper

NM_001375584.1

p.R282W

c.844A>T

1 paper

NM_001375584.1

p.S337F

c.1010C>T

1 paper

NM_001375584.1

p.L339R

c.1016T>G

1 paper

NM_001375584.1

p.I341F

c.1021A>T

1 paper

NM_001375584.1

p.C345Y

c.1034G>A

1 paper

NM_001375584.1

p.Y359C

c.1076A>G