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.N590K

c.1770C>A

Surrounding Variants

1 paper

NM_017575.5

p.N590K

c.1770C>G

1 paper

NM_017575.5

p.R586W

c.1756C>T

1 paper

NM_017575.5

p.L598V

c.1792C>G

1 paper

NM_017575.5

p.Q571R

c.1712A>G

1 paper

NM_017575.5

p.E570D

c.1710G>T

1 paper

NM_017575.5

p.E570D

c.1710G>C

1 paper

NM_017575.5

p.Q553R

c.1658A>G

1 paper

NM_017575.5

p.P550L

c.1649C>T

1 paper

NM_017575.5

p.P548L

c.1643C>T

1 paper

NM_017575.5

p.G546A

c.1637G>C

1 paper

NM_017575.5

p.G537C

c.1609G>T

1 paper

NM_017575.5

p.T535M

c.1604C>T