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

43 papers

NM_007375.4

p.F149L

c.447T>A

Surrounding Variants

43 papers

NM_007375.4

p.F149L

c.447T>G

43 papers

NM_007375.4

p.F149L

c.445T>C

1 paper

NM_007375.4

p.V150A

c.449T>C

1 paper

NM_007375.4

p.G148G

c.444C>A

1 paper

NM_007375.4

p.R151C

c.451C>T

2 papers

NM_007375.4

p.G148D

c.443G>A

1 paper

NM_007375.4

p.G148S

c.442G>A

1 paper

NM_007375.4

p.G148C

c.442G>T

1 paper

NM_007375.4

p.G148delFs

c.443_444delGC

1 paper

NM_007375.4

p.G148fs

c.442_443fs

46 papers

NM_007375.4

p.F147L

c.441T>A

46 papers

NM_007375.4

p.F147L

c.441T>G