Varaico: Literature-Extracted Genetic Variants

Gene:METTL3
Variant:p.H216P

METTL3

96 papers

RefSeq Summary

This gene encodes the 70 kDa subunit of MT-A which is part of N6-adenosine-methyltransferase. This enzyme is involved in the posttranscriptional methylation of internal adenosine residues in eukaryoti...

Pfam Domains

MT-A70aa 389–550UCSCMT-A70

Gene Aliases

HGNC Name

methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit

HGNC Alias Symbols

Spo8; M6A; MT-A70

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019852.5
p.H216P
c.647A>C
Surrounding Variants
1 paper
NM_019852.5
p.S219A
c.655T>G
1 paper
NM_019852.5
p.E226fs
c.676_677fs
1 paper
NM_019852.5
p.E226_S227delFs
c.677_680del4
1 paper
NM_019852.5
p.E204fs
c.610_611fs
1 paper
NM_019852.5
p.S201L
c.602C>T
1 paper
NM_019852.5
p.L198M
c.592C>A
1 paper
NM_019852.5
p.Q238E
c.712C>G
1 paper
NM_019852.5
p.A191T
c.571G>A
1 paper
NM_019852.5
p.A189A
c.567C>T
1 paper
NM_019852.5
p.V173G
c.518T>G
1 paper
NM_019852.5
p.K164R
c.491A>G
1 paper
NM_019852.5
p.G158A
c.473G>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."