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.A5D

c.14C>A

Surrounding Variants

1 paper

NM_015092.5

p.A5P

c.13G>C

1 paper

NM_015092.5

p.R4K

c.11G>A

1 paper

NM_015092.5

p.S2insFs

c.6dupC

1 paper

NM_015092.5

p.S8T

c.22T>A

1 paper

NM_015092.5

p.S2insFs

c.4dupA

1 paper

NM_015092.5

p.S8Y

c.23C>A

1 paper

NM_015092.5

p.S2C

c.4A>T

1 paper

NM_015092.5

p.S8_R9del0

c.22_27del6

1 paper

NM_015092.5

p.S11N

c.32G>A

1 paper

NM_015092.5

p.S12G

c.34A>G

1 paper

NM_015092.5

p.S12T

c.35G>C

1 paper

NM_015092.5

p.S12N

c.35G>A