Varaico: Literature-Extracted Genetic Variants

Gene:ALKBH8
Variant:p.L486P

ALKBH8

55 papers

Pfam Domains

ALKBH8_Naa 1–37UCSCAlkylated DNA repair protein alkB homolog 8, N-terminal
RRM_1aa 49–108UCSCRNA recognition motif
2OG-FeII_Oxy_2aa 136–334UCSC2OG-Fe(II) oxygenase superfamily
Methyltransf_11aa 411–501UCSCMethyltransferase domain

Gene Aliases

HGNC Name

alkB homolog 8, tRNA methyltransferase

HGNC Alias Symbols

MGC10235; TRM9; TRMT9A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138775.3
p.L486P
c.1457T>C
Surrounding Variants
1 paper
NM_138775.3
p.E488G
c.1463A>G
1 paper
NM_138775.3
p.V483A
c.1448T>C
2 papers
NM_138775.3
p.R481H
c.1442G>A
1 paper
NM_138775.3
p.A499V
c.1496C>T
1 paper
NM_138775.3
p.V503F
c.1507G>T
3 papers
NM_138775.3
p.W504S
c.1511G>C
1 paper
NM_138775.3
p.G520E
c.1559G>A
1 paper
NM_138775.3
p.R551*
c.1651C>T
1 paper
NM_138775.3
p.R559fs
c.1675_1676fs
1 paper
NM_138775.3
p.R559delFs
c.1675delG
1 paper
NM_138775.3
p.I560N
c.1679T>A
1 paper
NM_138775.3
p.R571K
c.1712G>A
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