Varaico: Literature-Extracted Genetic Variants

Gene:THUMPD2
Variant:p.D192fs

THUMPD2

32 papers

Pfam Domains

THUMPaa 184–263UCSCTHUMP domain
UPF0020aa 272–433UCSCRMKL-like, methyltransferase domain

Gene Aliases

HGNC Name

THUMP domain 2 tRNA and snRNA guanosine methyltransferase

HGNC Alias Symbol

MGC2454

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025264.5
p.D192fs
c.574_575fs
Surrounding Variants
1 paper
NM_025264.5
p.D192Y
c.574G>T
1 paper
NM_025264.5
p.A196V
c.587C>T
1 paper
NM_025264.5
p.D192_I197delFs
c.574_590del17
1 paper
NM_025264.5
p.E182D
c.546A>T
1 paper
NM_025264.5
p.E182D
c.546A>C
2 papers
NM_025264.5
p.D176Y
c.526G>T
1 paper
NM_025264.5
p.R159G
c.475A>G
1 paper
NM_025264.5
p.Q224_E225Splc
c.672+31G>A
1 paper
NM_025264.5
p.K122R
c.365A>G
1 paper
NM_025264.5
p.N114fs
c.340_341fs
1 paper
NM_025264.5
p.N114delFs
c.341delT
1 paper
NM_025264.5
p.N99_S104delFs
c.295_311del17
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