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.N1333S

c.3998A>G

Surrounding Variants

1 paper

NM_017575.5

p.L1325M

c.3973C>A

1 paper

NM_017575.5

p.R1321Q

c.3962G>A

1 paper

NM_017575.5

p.Y1299_A1300ins1

c.3897_3898insATT

1 paper

NM_017575.5

p.Y1299ins1

c.3896_3897insGTT

1 paper

NM_017575.5

p.D1353N

c.4057G>A

7 papers

NM_017575.5

p.D1353A

c.4058A>C

1 paper

NM_017575.5

p.H1362N

c.4084C>A

3 papers

NM_017575.5

p.D1251A

c.3752A>C

1 paper

NM_017575.5

p.D1251N

c.3751G>A

1 paper

NM_017575.5

p.L1248L

c.3744C>T

1 paper

NM_017575.5

p.E1242K

c.3724G>A

1 paper

NM_017575.5

p.D1391A

c.4172A>C