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.P397L

c.1190C>T

Surrounding Variants

1 paper

NM_017575.5

p.R402Q

c.1205G>A

1 paper

NM_017575.5

p.R404H

c.1211G>A

2 papers

NM_017575.5

p.G376E

c.1127G>A

1 paper

NM_017575.5

p.G442E

c.1325G>A

1 paper

NM_017575.5

p.R351H

c.1052G>A

3 papers

NM_017575.5

p.N341T

c.1022A>C

1 paper

NM_017575.5

p.P458R

c.1373C>G

1 paper

NM_017575.5

p.P461R

c.1382C>G

1 paper

NM_017575.5

p.W331C

c.993G>T

1 paper

NM_017575.5

p.W331C

c.993G>C

1 paper

NM_017575.5

p.N330K

c.990C>G

1 paper

NM_017575.5

p.N330K

c.990C>A