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

94 papers

NM_007375.4

p.N345K

c.1035C>G

Surrounding Variants

94 papers

NM_007375.4

p.N345K

c.1035C>A

1 paper

NM_007375.4

p.N345S

c.1034A>G

1 paper

NM_007375.4

p.Q343P

c.1028A>C

165 papers

NM_007375.4

p.Q343R

c.1028A>G

11 papers

NM_007375.4

p.G348R

c.1042G>C

228 papers

NM_007375.4

p.G348C

c.1042G>T

1 paper

NM_007375.4

p.Q343K

c.1027C>A

1 paper

NM_007375.4

p.G348D

c.1043G>A

47 papers

NM_007375.4

p.G348V

c.1043G>T

1 paper

NM_007375.4

p.S342R

c.1026C>A

1 paper

NM_007375.4

p.S342R

c.1026C>G

1 paper

NM_007375.4

p.Q343_Q344delFs

c.1027_1031del5