Varaico: Literature-Extracted Genetic Variants

Gene:METTL13
Variant:p.S175F

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.S175F
c.524C>T
Surrounding Variants
1 paper
NM_015935.5
p.V181G
c.542T>G
1 paper
NM_015935.5
p.L161L
c.483G>T
1 paper
NM_015935.5
p.E195*
c.583G>T
1 paper
NM_015935.5
p.Q199_F200del1
c.597_599delGTT
2 papers
NM_015935.5
p.Q199Q
c.597G>A
1 paper
NM_015935.5
p.F200del1
c.598_599delTTC
1 paper
NM_015935.5
p.P203L
c.608C>T
1 paper
NM_015935.5
p.A206D
c.617C>A
1 paper
NM_015935.5
p.Q221*
c.661C>T
1 paper
NM_015935.5
p.A227T
c.679G>A
1 paper
NM_015935.5
p.E244K
c.730G>A
7 papers
NM_015935.5
p.M105V
c.313A>G
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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."