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.T1028M

c.3083C>T

Surrounding Variants

1 paper

NM_015092.5

p.R1036S

c.3108G>T

1 paper

NM_015092.5

p.R1036S

c.3108G>C

1 paper

NM_015092.5

p.T1018N

c.3053C>A

1 paper

NM_015092.5

p.Y1017_T1018insFs

c.3051_3052insA

2 papers

NM_015092.5

p.T1060I

c.3179C>T

1 paper

NM_015092.5

p.K1010_V1011Splc

c.3030+1G>A

1 paper

NM_015092.5

p.D970H

c.2908G>C

1 paper

NM_015092.5

p.S927P

c.2779T>C

1 paper

NM_015092.5

p.E919*

c.2755G>T

1 paper

NM_015092.5

p.R903H

c.2708G>A

1 paper

NM_015092.5

p.R903C

c.2707C>T

1 paper

NM_015092.5

p.D880E

c.2640C>G