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.F655V

c.1963T>G

Surrounding Variants

1 paper

NM_017575.5

p.R673K

c.2018G>A

1 paper

NM_017575.5

p.L628P

c.1883T>C

1 paper

NM_017575.5

p.C626Y

c.1877G>A

2 papers

NM_017575.5

p.R710C

c.2128C>T

1 paper

NM_017575.5

p.S711N

c.2132G>A

1 paper

NM_017575.5

p.L598V

c.1792C>G

1 paper

NM_017575.5

p.N590K

c.1770C>G

1 paper

NM_017575.5

p.N590K

c.1770C>A

1 paper

NM_017575.5

p.R586W

c.1756C>T

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