Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.M311V

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
45 papers
NM_007375.4
p.M311V
c.931A>G
Surrounding Variants
2 papers
NM_007375.4
p.G310R
c.928G>A
1 paper
NM_007375.4
p.G310R
c.928G>C
1 paper
NM_007375.4
p.N312S
c.935A>G
2 papers
NM_007375.4
p.F313L
c.937T>C
1 paper
NM_007375.4
p.F313Y
c.938T>A
2 papers
NM_007375.4
p.F313L
c.939T>A
2 papers
NM_007375.4
p.F313L
c.939T>G
1 paper
NM_007375.4
p.G308S
c.922G>A
1 paper
NM_007375.4
p.M307I
c.921G>A
2 papers
NM_007375.4
p.G314A
c.941G>C
5 papers
NM_007375.4
p.G314V
c.941G>T
700 papers
NM_007375.4
p.A315T
c.943G>A
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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."