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

3 papers

NM_015092.5

p.R148insFs

c.442dupC

Surrounding Variants

1 paper

NM_015092.5

p.S147_R148insFs

c.439_442dup4

1 paper

NM_015092.5

p.D145N

c.433G>A

1 paper

NM_015092.5

p.S144F

c.431C>T

1 paper

NM_015092.5

p.R139*

c.415A>T

1 paper

NM_015092.5

p.R158W

c.472C>T

2 papers

NM_015092.5

p.T157_R162insFs

c.469_484dup16

1 paper

NM_015092.5

p.L183_V184Splc

c.550-1G>A

1 paper

NM_015092.5

p.K187*

c.559A>T

1 paper

NM_015092.5

p.L189_D190ins4

c.565_569ins12

1 paper

NM_015092.5

p.Q188del1

c.562_563delTTG

1 paper

NM_015092.5

p.S203Splc

c.609-1G>C

1 paper

NM_015092.5

p.L206V

c.616T>G