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.Q2657R

c.7970A>G

Surrounding Variants

1 paper

NM_015092.5

p.F2656S

c.7967T>C

1 paper

NM_015092.5

p.A2654T

c.7960G>A

1 paper

NM_015092.5

p.N2674ins1

c.8020_8021insTGT

1 paper

NM_015092.5

p.L2638L

c.7914G>T

1 paper

NM_015092.5

p.R2635H

c.7904G>A

1 paper

NM_015092.5

p.S2632S

c.7896C>T

1 paper

NM_015092.5

p.R2631H

c.7892G>A

1 paper

NM_015092.5

p.Y2684D

c.8050T>G

1 paper

NM_015092.5

p.R2630S

c.7890G>T

1 paper

NM_015092.5

p.R2630S

c.7890G>C

1 paper

NM_015092.5

p.L2626V

c.7876C>G

1 paper

NM_015092.5

p.G2621R

c.7861G>C