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.K176N

c.528A>C

Surrounding Variants

1 paper

NM_007375.4

p.K176N

c.528A>T

1 paper

NM_007375.4

p.K176R

c.527A>G

6 papers

NM_007375.4

p.K176I

c.527A>T

2 papers

NM_007375.4

p.L177F

c.529C>T

1 paper

NM_007375.4

p.C175C

c.525C>T

1 paper

NM_007375.4

p.L177L

c.531T>A

14 papers

NM_007375.4

p.C175S

c.524G>C

3 papers

NM_007375.4

p.P178R

c.533C>G

14 papers

NM_007375.4

p.C175S

c.523T>A

1 paper

NM_007375.4

p.P178P

c.534T>A

7 papers

NM_007375.4

p.D174A

c.521A>C

2 papers

NM_007375.4

p.N179D

c.535A>G