Varaico: Literature-Extracted Genetic Variants

Gene:NOM1

NOM1

54 papers

RefSeq Summary

Proteins that contain MIF4G (middle of eIF4G (MIM 600495)) and/or MA3 domains, such as NOM1, function in protein translation. These domains include binding sites for members of the EIF4A family of ATP...

Pfam Domains

MIF4Gaa 362–559UCSCMIF4G domain
MA3aa 655–761UCSCMA3 domain

Gene Aliases

HGNC Name

nucleolar protein with MIF4G domain 1

HGNC Alias Symbols

SGD1; PPP1R113

Papers
RefSeq ID
Protein change
DNA change
1–12 of 68 variants
4 papers
NM_138400.2
p.R779H
c.2336G>A
2 papers
NM_138400.2
p.A278E
c.833C>A
2 papers
NM_138400.2
p.R608H
c.1823G>A
2 papers
NM_138400.2
p.V812M
c.2434G>A
1 paper
NM_138400.2
p.M1K
c.2T>A
1 paper
NM_138400.2
p.R31L
c.92G>T
1 paper
NM_138400.2
p.G63R
c.187G>A
1 paper
NM_138400.2
p.P76L
c.227C>T
1 paper
NM_138400.2
p.Q99*
c.295C>T
1 paper
NM_138400.2
p.D137D
c.411C>T
1 paper
NM_138400.2
p.T160_R161insD
c.478_482ins3
1 paper
NM_138400.2
p.E180Q
c.538G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."