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

1–12 of 146 variants

7 papers

NM_017575.5

p.D1353A

c.4058A>C

3 papers

NM_017575.5

p.R291P

c.872G>C

3 papers

NM_017575.5

p.N341T

c.1022A>C

3 papers

NM_017575.5

p.D1251A

c.3752A>C

2 papers

NM_017575.5

p.D248E

c.744C>G

2 papers

NM_017575.5

p.D248E

c.744C>A

2 papers

NM_017575.5

p.R255G

c.763C>G

2 papers

NM_017575.5

p.D275G

c.824A>G

2 papers

NM_017575.5

p.G376E

c.1127G>A

2 papers

NM_017575.5

p.R710C

c.2128C>T

2 papers

NM_017575.5

p.Y769C

c.2306A>G

2 papers

NM_017575.5

p.D1392A

c.4175A>C