Varaico: Literature-Extracted Genetic Variants

SMG1

342 papers

RefSeq Summary

This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylatin...

Pfam Domains

SMG1_Naa 32–140UCSCSerine/threonine-protein kinase SMG1 N-terminal

SMG1aa 631–1242UCSCSerine/threonine-protein kinase smg-1

PI3_PI4_kinaseaa 2149–2427UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3630–3661UCSCFATC domain

Gene Aliases

HGNC Name

SMG1 nonsense mediated mRNA decay associated PI3K related kinase

HGNC Alias Symbols

LIP; KIAA0421; ATX

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015092.5

p.E3143D

c.9429A>C

Surrounding Variants

1 paper

NM_015092.5

p.E3143D

c.9429A>T

1 paper

NM_015092.5

p.K3131R

c.9392A>G

1 paper

NM_015092.5

p.A3128A

c.9384C>T

1 paper

NM_015092.5

p.S3164G

c.9490A>G

1 paper

NM_015092.5

p.E3122Q

c.9364G>C

1 paper

NM_015092.5

p.Y3166S

c.9497A>C

1 paper

NM_015092.5

p.S3164_T3168delFs

c.9490_9502del13

1 paper

NM_015092.5

p.H3173Y

c.9517C>T

1 paper

NM_015092.5

p.R3177Q

c.9530G>A

1 paper

NM_015092.5

p.F3109fs

c.9325_9326fs

1 paper

NM_015092.5

p.R3192Q

c.9575G>A

1 paper

NM_015092.5

p.K3065fs

c.9193_9194fs