Varaico: Literature-Extracted Genetic Variants

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

1 paper

NM_007375.4

p.E122G

c.365A>G

Surrounding Variants

1 paper

NM_007375.4

p.K121N

c.363A>C

1 paper

NM_007375.4

p.K121N

c.363A>T

1 paper

NM_007375.4

p.Y123N

c.367T>A

1 paper

NM_007375.4

p.K121R

c.362A>G

1 paper

NM_007375.4

p.K121Q

c.361A>C

1 paper

NM_007375.4

p.L120L

c.360G>C

1 paper

NM_007375.4

p.L120insFs

c.359_360insT

1 paper

NM_007375.4

p.S125N

c.374G>A

1 paper

NM_007375.4

p.S125_T126insFs

c.375_376insT

1 paper

NM_007375.4

p.D119N

c.355G>A

1 paper

NM_007375.4

p.D119H

c.355G>C

1 paper

NM_007375.4

p.T126N

c.377C>A