Varaico: Literature-Extracted Genetic Variants

Gene:METTL23
Variant:p.H57fs

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
7 papers
NM_001080510.5
p.H57fs
c.169_170fs
Surrounding Variants
1 paper
NM_001080510.5
p.H57fs
c.169_170fs
1 paper
NM_001080510.5
p.H57_C58delFs
c.171_172delCT
2 papers
NM_001080510.5
p.C58_L59delFs
c.174_177del4
12 papers
NM_001080510.5
p.H57_C58delFs
c.169_172del4
2 papers
NM_001080510.5
p.L59insFs
c.176_177insG
1 paper
NM_001080510.5
p.E60fs
c.178_179fs
1 paper
NM_001080510.5
p.R63W
c.187C>T
1 paper
NM_001080510.5
p.R63Q
c.188G>A
1 paper
NM_001080510.5
p.S65fs
c.193_194fs
1 paper
NM_001080510.5
p.S65_N70delFs
c.195_210del16
1 paper
NM_001080510.5
p.M68_N69del1
c.204_206delGAA
1 paper
NM_001080510.5
p.L74_Q75delFs
c.221_224del4
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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."