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

2 papers

NM_015092.5

p.S241T

c.722G>C

Surrounding Variants

1 paper

NM_015092.5

p.L250V

c.748C>G

1 paper

NM_015092.5

p.C254R

c.760T>C

1 paper

NM_015092.5

p.L225_S226delFs

c.674_677del4

1 paper

NM_015092.5

p.L225L

c.673C>T

1 paper

NM_015092.5

p.L220P

c.659T>C

1 paper

NM_015092.5

p.T262T

c.786T>A

1 paper

NM_015092.5

p.V263G

c.788T>G

1 paper

NM_015092.5

p.L218L

c.654T>C

1 paper

NM_015092.5

p.C216ins1

c.647_648insTCA

1 paper

NM_015092.5

p.E213D

c.639G>T

1 paper

NM_015092.5

p.E213G

c.638A>G

1 paper

NM_015092.5

p.L206V

c.616T>G