Varaico: Literature-Extracted Genetic Variants

Gene:METTL23
Variant:p.S136Splc

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
4 papers
NM_001080510.5
p.S136Splc
c.407+1G>C
Surrounding Variants
1 paper
NM_001080510.5
p.V134A
c.401T>C
5 papers
NM_001080510.5
p.Q133*
c.397C>T
1 paper
NM_001080510.5
p.K122N
c.366G>C
1 paper
NM_001080510.5
p.K122N
c.366G>T
1 paper
NM_001080510.5
p.F118V
c.352T>G
5 papers
NM_001080510.5
p.D108Splc
c.322+2T>C
4 papers
NM_001080510.5
p.L145_Y146delFs
c.434_438del5
1 paper
NM_001080510.5
p.P106L
c.317C>T
1 paper
NM_001080510.5
p.L145fs
c.433_434fs
1 paper
NM_001080510.5
p.F104L
c.312T>A
1 paper
NM_001080510.5
p.F104L
c.312T>G
2 papers
NM_001080510.5
p.F104L
c.310T>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."