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.K199N

c.597A>C

Surrounding Variants

1 paper

NM_001375584.1

p.K199N

c.597A>T

1 paper

NM_001375584.1

p.F207L

c.619T>C

1 paper

NM_001375584.1

p.F207L

c.621C>A

1 paper

NM_001375584.1

p.F207L

c.621C>G

1 paper

NM_001375584.1

p.Q187E

c.559C>G

1 paper

NM_001375584.1

p.S231A

c.691T>G

1 paper

NM_001375584.1

p.E235_S236delFs

c.705_706delAA

1 paper

NM_001375584.1

p.S236Splc

c.708-138T>C

1 paper

NM_001375584.1

p.R237Q

c.710G>A

1 paper

NM_001375584.1

p.G245S

c.733G>A

1 paper

NM_001375584.1

p.S265_L266del2

c.793_797del6

1 paper

NM_001375584.1

p.A178T

c.532G>A