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

3 papers

NM_001375584.1

p.K132E

c.394A>G

Surrounding Variants

1 paper

NM_001375584.1

p.I128F

c.382A>T

1 paper

NM_001375584.1

p.L126F

c.378G>C

1 paper

NM_001375584.1

p.L126F

c.378G>T

1 paper

NM_001375584.1

p.A138T

c.412G>A

1 paper

NM_001375584.1

p.S123Y

c.368C>A

1 paper

NM_001375584.1

p.S123P

c.367T>C

1 paper

NM_001375584.1

p.Q170H

c.510G>C

1 paper

NM_001375584.1

p.Q170H

c.510G>T

1 paper

NM_001375584.1

p.A178T

c.532G>A

1 paper

NM_001375584.1

p.Q187E

c.559C>G

1 paper

NM_001375584.1

p.K199N

c.597A>C

1 paper

NM_001375584.1

p.K199N

c.597A>T