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

110 papers

NM_007375.4

p.N390D

c.1168A>G

Surrounding Variants

83 papers

NM_007375.4

p.N390S

c.1169A>G

1 paper

NM_007375.4

p.A391P

c.1171G>C

1 paper

NM_007375.4

p.S389_A391ins1

c.1167_1172dup6

2 papers

NM_007375.4

p.A391G

c.1172C>G

1 paper

NM_007375.4

p.A388V

c.1163C>T

1 paper

NM_007375.4

p.A388S

c.1162G>T

1 paper

NM_007375.4

p.G392A

c.1175G>C

7 papers

NM_007375.4

p.G392G

c.1176G>T

2 papers

NM_007375.4

p.S393A

c.1177T>G

1 paper

NM_007375.4

p.S387insFs

c.1159_1160ins8

1 paper

NM_007375.4

p.A388_A391del4

c.1162_1172del12

1 paper

NM_007375.4

p.G386_S387insFs

c.1158_1159ins8