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.D800N

c.2398G>A

Surrounding Variants

1 paper

NM_015092.5

p.R797Splc

c.2391-1G>A

1 paper

NM_015092.5

p.R803C

c.2407C>T

1 paper

NM_015092.5

p.R797G

c.2389A>G

1 paper

NM_015092.5

p.R803H

c.2408G>A

1 paper

NM_015092.5

p.R814*

c.2440C>T

1 paper

NM_015092.5

p.K762I

c.2285A>T

1 paper

NM_015092.5

p.K759insFs

c.2276_2277ins5

1 paper

NM_015092.5

p.F757Y

c.2270T>A

1 paper

NM_015092.5

p.P755L

c.2264C>T

1 paper

NM_015092.5

p.S753C

c.2258C>G

1 paper

NM_015092.5

p.N832D

c.2494A>G

1 paper

NM_015092.5

p.D861Y

c.2581G>T