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

2 papers

NM_017575.5

p.Y769C

c.2306A>G

Surrounding Variants

1 paper

NM_017575.5

p.R767C

c.2299C>T

1 paper

NM_017575.5

p.A773S

c.2317G>T

1 paper

NM_017575.5

p.L756L

c.2266C>T

1 paper

NM_017575.5

p.G749R

c.2245G>C

1 paper

NM_017575.5

p.G749R

c.2245G>A

1 paper

NM_017575.5

p.D734N

c.2200G>A

1 paper

NM_017575.5

p.C728delFs

c.2184delG

1 paper

NM_017575.5

p.S711N

c.2132G>A

2 papers

NM_017575.5

p.R710C

c.2128C>T

1 paper

NM_017575.5

p.R673K

c.2018G>A

1 paper

NM_017575.5

p.F655V

c.1963T>G

1 paper

NM_017575.5

p.L628P

c.1883T>C