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.W488*

c.1463G>A

Surrounding Variants

1 paper

NM_017575.5

p.W488*

c.1464G>A

1 paper

NM_017575.5

p.S484delFs

c.1452delG

1 paper

NM_017575.5

p.L474L

c.1420C>T

1 paper

NM_017575.5

p.T471M

c.1412C>T

1 paper

NM_017575.5

p.P461R

c.1382C>G

1 paper

NM_017575.5

p.P458R

c.1373C>G

1 paper

NM_017575.5

p.P521S

c.1561C>T

1 paper

NM_017575.5

p.P521R

c.1562C>G

1 paper

NM_017575.5

p.G442E

c.1325G>A

1 paper

NM_017575.5

p.T535M

c.1604C>T

1 paper

NM_017575.5

p.G537C

c.1609G>T

1 paper

NM_017575.5

p.G546A

c.1637G>C