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.P717S

c.2149C>T

Surrounding Variants

1 paper

NM_001375584.1

p.S719R

c.2155A>C

1 paper

NM_001375584.1

p.S719R

c.2157C>A

1 paper

NM_001375584.1

p.S719R

c.2157C>G

1 paper

NM_001375584.1

p.Q709_A710delFs

c.2126_2130del5

1 paper

NM_001375584.1

p.M729V

c.2185A>G

1 paper

NM_001375584.1

p.G705_N706delFs

c.2114_2118del5

1 paper

NM_001375584.1

p.G705_N706del2

c.2113_2117del6

1 paper

NM_001375584.1

p.A704G

c.2111C>G

1 paper

NM_001375584.1

p.Q758insFs

c.2273dupA

1 paper

NM_001375584.1

p.P674H

c.2021C>A

1 paper

NM_001375584.1

p.P665L

c.1994C>T

1 paper

NM_001375584.1

p.P776P

c.2328G>C