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.S530R

c.1588A>C

Surrounding Variants

1 paper

NM_001375584.1

p.S530R

c.1590C>A

1 paper

NM_001375584.1

p.S530R

c.1590C>G

1 paper

NM_001375584.1

p.R531Q

c.1592G>A

1 paper

NM_001375584.1

p.S528F

c.1583C>T

1 paper

NM_001375584.1

p.S528fs

c.1582_1583fs

1 paper

NM_001375584.1

p.G519E

c.1556G>A

2 papers

NM_001375584.1

p.G519R

c.1555G>A

2 papers

NM_001375584.1

p.G519R

c.1555G>C

1 paper

NM_001375584.1

p.E513*

c.1537G>T

1 paper

NM_001375584.1

p.Q560insFs

c.1678_1679insCC

1 paper

NM_001375584.1

p.Q560ins1

c.1678_1679insCCC

1 paper

NM_001375584.1

p.R570T

c.1709G>C