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.H3418R

c.10253A>G

Surrounding Variants

1 paper

NM_015092.5

p.L3415R

c.10244T>G

1 paper

NM_015092.5

p.V3408A

c.10223T>C

1 paper

NM_015092.5

p.T3399M

c.10196C>T

1 paper

NM_015092.5

p.Q3386E

c.10156C>G

2 papers

NM_015092.5

p.R3353H

c.10058G>A

1 paper

NM_015092.5

p.I3330T

c.9989T>C

1 paper

NM_015092.5

p.L3320F

c.9960A>T

1 paper

NM_015092.5

p.L3320F

c.9960A>C

1 paper

NM_015092.5

p.H3308D

c.9922C>G

1 paper

NM_015092.5

p.P3516S

c.10546C>T

1 paper

NM_015092.5

p.T3529T

c.10587G>T

1 paper

NM_015092.5

p.Q3294K

c.9880C>A