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

4 papers

NM_015092.5

p.A35T

c.103G>A

Surrounding Variants

1 paper

NM_015092.5

p.R31*

c.91A>T

1 paper

NM_015092.5

p.R31Splc

c.93-28C>T

1 paper

NM_015092.5

p.G52C

c.154G>T

1 paper

NM_015092.5

p.Y56F

c.167A>T

1 paper

NM_015092.5

p.S61L

c.182C>T

1 paper

NM_015092.5

p.S61*

c.182C>A

1 paper

NM_015092.5

p.V65M

c.193G>A

1 paper

NM_015092.5

p.V66L

c.196G>T

1 paper

NM_015092.5

p.S67F

c.200C>T

1 paper

NM_015092.5

p.D72A

c.215A>C

1 paper

NM_015092.5

p.D79D

c.237C>T

1 paper

NM_015092.5

p.G86C

c.256G>T