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.K847*

c.2539A>T

Surrounding Variants

2 papers

NM_001375584.1

p.M849insFs

c.2545dupA

1 paper

NM_001375584.1

p.M849delFs

c.2545delA

1 paper

NM_001375584.1

p.M849fs

c.2545_2546fs

1 paper

NM_001375584.1

p.P851R

c.2552C>G

1 paper

NM_001375584.1

p.P851L

c.2552C>T

1 paper

NM_001375584.1

p.P853S

c.2557C>T

1 paper

NM_001375584.1

p.E832A

c.2495A>C

2 papers

NM_001375584.1

p.P819A

c.2455C>G

1 paper

NM_001375584.1

p.A885_Q886insFs

c.2655_2656insA

1 paper

NM_001375584.1

p.P803insFs

c.2407dupC

1 paper

NM_001375584.1

p.L800insFs

c.2398_2399insA

1 paper

NM_001375584.1

p.R896Q

c.2687G>A