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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:METTL2B

Variant:p.K341N

METTL2B

37 papers

RefSeq Summary

This gene is a member of a family of methyltransferases that share homology with, but are distinct from, the UbiE family of methyltransferases. Alternatively spliced variants which encode different pr...

Pfam Domains

Methyltransf_12aa 185–288UCSCMethyltransferase domain

Gene Aliases

HGNC Name

methyltransferase 2B, tRNA N3-cytidine

HGNC Alias Symbols

METL; FLJ11350

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr7:128501802 A>T

NM_018396.3

p.K341N

c.1023A>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a64 overlapping SVs

Surrounding Variants

1 paper

chr7:128501802 A>C

NM_018396.3

p.K341N

c.1023A>C

exact variant not in gnomAD64 overlapping SVs

1 paper

chr7:128501778 T>G

NM_018396.3

p.L333L

c.999T>G

exact variant not in gnomAD64 overlapping SVs

1 paper

chr7:128500915 C>T

NM_018396.3

p.S310F

c.929C>T

exact variant not in gnomAD64 overlapping SVs

2 papers

chr7:128498131 G>A

NM_018396.3

p.R302Q

c.905G>A

Exome: 3.9% (AC=57598, hom=1291)Genome: 3.3% (AC=5016, hom=121)66 overlapping SVs

1 paper

chr7:128493937 C>A

NM_018396.3

p.P268Q

c.803C>A

Methyltransf_12

exact variant not in gnomAD63 overlapping SVs

1 paper

chr7:128493934 T>C

NM_018396.3

p.V267A

c.800T>C

Methyltransf_12

exact variant not in gnomAD63 overlapping SVs

2 papers

chr7:128493930 G>A

NM_018396.3

p.V266I

c.796G>A

Methyltransf_12

Exome: 99.7% (AC=1441032, hom=718871)Genome: 97.7% (AC=148708, hom=72709)63 overlapping SVs

1 paper

chr7:128493849 G>A

NM_018396.3

p.D239N

c.715G>A

Methyltransf_12

Exome: 0.0% (AC=520, hom=0)Genome: 0.1% (AC=88, hom=0)63 overlapping SVs

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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."