Varaico: Literature-Extracted Genetic Variants

Gene:METTL23
Variant:p.D166H

METTL23

38 papers

RefSeq Summary

The protein encoded by this gene functions as a transcription factor regulator in the transcriptional pathway for human cognition. It is a partner of the alpha subunit of the GA-binding protein transc...

Pfam Domains

Methyltransf_16aa 1–141UCSCLysine methyltransferase

Gene Aliases

HGNC Name

methyltransferase 23, arginine

HGNC Previous Symbol

C17orf95

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080510.5
p.D166H
c.496G>C
Surrounding Variants
2 papers
NM_001080510.5
p.D166N
c.496G>A
1 paper
NM_001080510.5
p.I167_S170del4
c.499_509del12
4 papers
NM_001080510.5
p.E169_L172del4
c.505_515del12
1 paper
NM_001080510.5
p.P173T
c.517C>A
1 paper
NM_001080510.5
p.G174_T177del4
c.520_530del12
1 paper
NM_001080510.5
p.G174E
c.521G>A
2 papers
NM_001080510.5
p.L157fs
c.469_470fs
4 papers
NM_001080510.5
p.L157delFs
c.470_471delTT
2 papers
NM_001080510.5
p.H176_T177insG
c.526_530ins3
1 paper
NM_001080510.5
p.C152R
c.454T>C
3 papers
NM_001080510.5
p.M150T
c.449T>C
1 paper
NM_001080510.5
p.L145fs
c.433_434fs
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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."