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

2 papers

NM_007375.4

p.I318N

c.953T>A

Surrounding Variants

1 paper

NM_007375.4

p.I318S

c.953T>G

3 papers

NM_007375.4

p.N319S

c.956A>G

1 paper

NM_007375.4

p.S317N

c.950G>A

2 papers

NM_007375.4

p.S317T

c.950G>C

4 papers

NM_007375.4

p.S317C

c.949A>T

1 paper

NM_007375.4

p.P320A

c.958C>G

2 papers

NM_007375.4

p.P320S

c.958C>T

1 paper

NM_007375.4

p.P320L

c.959C>T

5 papers

NM_007375.4

p.A315A

c.945G>A

1 paper

NM_007375.4

p.A321T

c.961G>A

71 papers

NM_007375.4

p.A315E

c.944C>A

4 papers

NM_007375.4

p.A321D

c.962C>A