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

1–12 of 415 variants

4 papers

NM_015092.5

p.G13S

c.37G>A

4 papers

NM_015092.5

p.A35T

c.103G>A

4 papers

NM_015092.5

p.I612K

c.1835T>A

4 papers

NM_015092.5

p.Y3639C

c.10916A>G

3 papers

NM_015092.5

p.R148insFs

c.442dupC

3 papers

NM_015092.5

p.V2699M

c.8095G>A

3 papers

NM_015092.5

p.A3244A

c.9732A>G

2 papers

NM_015092.5

p.A5D

c.14C>A

2 papers

NM_015092.5

p.T157_R162insFs

c.469_484dup16

2 papers

NM_015092.5

p.S241T

c.722G>C

2 papers

NM_015092.5

p.R534C

c.1600C>T

2 papers

NM_015092.5

p.T1060I

c.3179C>T