Varaico: Literature-Extracted Genetic Variants

SMG6

131 papers

RefSeq Summary

This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-medi...

Pfam Domains

EST1aa 638–743UCSCTelomerase activating protein Est1

EST1_DNA_bindaa 751–1107UCSCEst1 DNA/RNA binding domain

PIN_4aa 1248–1410UCSCPIN domain

Gene Aliases

HGNC Name

SMG6 nonsense mediated mRNA decay factor

HGNC Previous Symbol

C17orf31

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017575.5

p.N252S

c.755A>G

Surrounding Variants

1 paper

NM_017575.5

p.R253H

c.758G>A

1 paper

NM_017575.5

p.Y254H

c.760T>C

1 paper

NM_017575.5

p.R255C

c.763C>T

2 papers

NM_017575.5

p.R255G

c.763C>G

2 papers

NM_017575.5

p.D248E

c.744C>G

2 papers

NM_017575.5

p.D248E

c.744C>A

1 paper

NM_017575.5

p.R243C

c.727C>T

1 paper

NM_017575.5

p.S261S

c.783A>C

1 paper

NM_017575.5

p.A262A

c.786T>A

1 paper

NM_017575.5

p.S267R

c.799A>C

1 paper

NM_017575.5

p.D231H

c.691G>C

2 papers

NM_017575.5

p.D275G

c.824A>G