Varaico: Literature-Extracted Genetic Variants

Gene:THUMPD2
Variant:p.L354P

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.L354P
c.1061T>C
Surrounding Variants
1 paper
NM_025264.5
p.D340V
c.1019A>T
1 paper
NM_025264.5
p.D329A
c.986A>C
1 paper
NM_025264.5
p.E360Splc
c.1078+149T>G
1 paper
NM_025264.5
p.L313R
c.938T>G
1 paper
NM_025264.5
p.L309P
c.926T>C
2 papers
NM_025264.5
p.A300P
c.898G>C
1 paper
NM_025264.5
p.K297_A298Splc
c.891+68A>T
1 paper
NM_025264.5
p.A287fs
c.859_860fs
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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."