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.T2704fs

c.8110_8111fs

Surrounding Variants

1 paper

NM_015092.5

p.A2705D

c.8114C>A

3 papers

NM_015092.5

p.V2699M

c.8095G>A

1 paper

NM_015092.5

p.T2698K

c.8093C>A

2 papers

NM_015092.5

p.R2727C

c.8179C>T

1 paper

NM_015092.5

p.Q2730E

c.8188C>G

1 paper

NM_015092.5

p.E2746Q

c.8236G>C

1 paper

NM_015092.5

p.A2786V

c.8357C>T

1 paper

NM_015092.5

p.V2794A

c.8381T>C

1 paper

NM_015092.5

p.T2816I

c.8447C>T

1 paper

NM_015092.5

p.Y2684D

c.8050T>G

1 paper

NM_015092.5

p.N2674ins1

c.8020_8021insTGT

1 paper

NM_015092.5

p.N2848I

c.8543A>T