Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.S273C

TARDBP

2,553 papers

RefSeq Summary

HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expr...

Pfam Domains

TDP-43_Naa 4–77UCSCTAR DNA-binding protein 43, N-terminal domain
RRM_1aa 106–172UCSCRNA recognition motif
RRM_1aa 193–243UCSCRNA recognition motif
TDP-43_Caa 262–372UCSCTAR DNA-binding protein 43, C-terminal

Gene Aliases

HGNC Name

TAR DNA binding protein

HGNC Alias Symbols

TDP-43; ALS10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_007375.4
p.S273C
c.817A>T
Surrounding Variants
1 paper
NM_007375.4
p.F276L
c.826T>C
1 paper
NM_007375.4
p.F276Y
c.827T>A
1 paper
NM_007375.4
p.Q269L
c.806A>T
1 paper
NM_007375.4
p.F276L
c.828T>A
1 paper
NM_007375.4
p.F276L
c.828T>G
1 paper
NM_007375.4
p.Q269*
c.805C>T
1 paper
NM_007375.4
p.G277D
c.830G>A
1 paper
NM_007375.4
p.G277V
c.830G>T
1 paper
NM_007375.4
p.R268G
c.802A>G
1 paper
NM_007375.4
p.G278V
c.833G>T
94 papers
NM_007375.4
p.N267S
c.800A>G
1 paper
NM_007375.4
p.N267I
c.800A>T
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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."