Varaico: Literature-Extracted Genetic Variants

Gene:METTL13
Variant:p.Q247H

METTL13

76 papers

Pfam Domains

Methyltransf_25aa 52–147UCSCMethyltransferase domain
Spermine_synthaa 472–630UCSCSpermine/spermidine synthase domain

Gene Aliases

HGNC Name

methyltransferase 13, eEF1A N-terminus and K55

HGNC Previous Symbols

KIAA0859; DFNM1; EEF1AKNMT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015935.5
p.Q247H
c.741G>C
Surrounding Variants
1 paper
NM_015935.5
p.Q247H
c.741G>T
1 paper
NM_015935.5
p.E244K
c.730G>A
1 paper
NM_015935.5
p.K262E
c.784A>G
1 paper
NM_015935.5
p.A227T
c.679G>A
1 paper
NM_015935.5
p.Q221*
c.661C>T
1 paper
NM_015935.5
p.D276G
c.827A>G
1 paper
NM_015935.5
p.T277M
c.830C>T
1 paper
NM_015935.5
p.Y282*
c.846C>A
1 paper
NM_015935.5
p.Y282*
c.846C>G
1 paper
NM_015935.5
p.A206D
c.617C>A
1 paper
NM_015935.5
p.P203L
c.608C>T
2 papers
NM_015935.5
p.Q199Q
c.597G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."