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.L553F

c.1657C>T

Surrounding Variants

1 paper

NM_015092.5

p.A551T

c.1651G>A

1 paper

NM_015092.5

p.Q550_A551insFs

c.1650_1651insC

1 paper

NM_015092.5

p.H546R

c.1637A>G

1 paper

NM_015092.5

p.H546Y

c.1636C>T

1 paper

NM_015092.5

p.V544V

c.1632A>T

1 paper

NM_015092.5

p.V542F

c.1624G>T

1 paper

NM_015092.5

p.T573S

c.1717A>T

1 paper

NM_015092.5

p.T573S

c.1718C>G

1 paper

NM_015092.5

p.N577D

c.1729A>G

1 paper

NM_015092.5

p.N577I

c.1730A>T

1 paper

NM_015092.5

p.S590delFs

c.1768delA

1 paper

NM_015092.5

p.E595delFs

c.1784delT