Varaico: Literature-Extracted Genetic Variants

Gene:METTL13
Variant:p.A550S

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.A550S
c.1648G>T
Surrounding Variants
1 paper
NM_015935.5
p.D551A
c.1652A>C
3 papers
NM_015935.5
p.R544Q
c.1631G>A
1 paper
NM_015935.5
p.E524A
c.1571A>C
1 paper
NM_015935.5
p.H512H
c.1536C>T
1 paper
NM_015935.5
p.G505C
c.1513G>T
1 paper
NM_015935.5
p.D452N
c.1354G>A
1 paper
NM_015935.5
p.A437Splc
c.1310-1G>T
1 paper
NM_015935.5
p.R566W
c.1696C>T
1 paper
NM_015935.5
p.D575A
c.1724A>C
1 paper
NM_015935.5
p.V576A
c.1727T>C
1 paper
NM_015935.5
p.D577A
c.1730A>C
1 paper
NM_015935.5
p.M585L
c.1753A>C
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