Varaico: Literature-Extracted Genetic Variants

Gene:ALKBH8
Variant:p.W596fs

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.W596fs
c.1786_1787fs
Surrounding Variants
1 paper
NM_138775.3
p.P595delFs
c.1785delG
1 paper
NM_138775.3
p.P602H
c.1805C>A
1 paper
NM_138775.3
p.P602fs
c.1804_1805fs
1 paper
NM_138775.3
p.P602delFs
c.1806delA
1 paper
NM_138775.3
p.P607R
c.1820C>G
1 paper
NM_138775.3
p.I614T
c.1841T>C
1 paper
NM_138775.3
p.R571K
c.1712G>A
1 paper
NM_138775.3
p.R625P
c.1874G>C
4 papers
NM_138775.3
p.R625H
c.1874G>A
1 paper
NM_138775.3
p.R631C
c.1891C>T
1 paper
NM_138775.3
p.I560N
c.1679T>A
1 paper
NM_138775.3
p.R559delFs
c.1675delG
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