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.R3014W

c.9040C>T

Surrounding Variants

1 paper

NM_015092.5

p.S3002G

c.9004A>G

1 paper

NM_015092.5

p.Q3027insFs

c.9080_9081insA

1 paper

NM_015092.5

p.T3038A

c.9112A>G

1 paper

NM_015092.5

p.S3040Y

c.9119C>A

1 paper

NM_015092.5

p.G2957D

c.8870G>A

1 paper

NM_015092.5

p.L3049F

c.9145C>T

1 paper

NM_015092.5

p.D3051_Q3052insA

c.9151_9155ins3

1 paper

NM_015092.5

p.N3063S

c.9188A>G

1 paper

NM_015092.5

p.K3065fs

c.9193_9194fs

1 paper

NM_015092.5

p.Q2936Q

c.8808G>A

1 paper

NM_015092.5

p.F3109fs

c.9325_9326fs

1 paper

NM_015092.5

p.E3122Q

c.9364G>C