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.N259Y

c.775A>T

Surrounding Variants

5 papers

NM_007375.4

p.N259S

c.776A>G

1 paper

NM_007375.4

p.S258S

c.774C>G

4 papers

NM_007375.4

p.S258A

c.772T>G

1 paper

NM_007375.4

p.A260G

c.779C>G

1 paper

NM_007375.4

p.A260V

c.779C>T

1 paper

NM_007375.4

p.A260A

c.780C>T

1 paper

NM_007375.4

p.I257T

c.770T>C

1 paper

NM_007375.4

p.E261K

c.781G>A

2 papers

NM_007375.4

p.E261A

c.782A>C

2 papers

NM_007375.4

p.H256Q

c.768T>A

2 papers

NM_007375.4

p.H256Q

c.768T>G

1 paper

NM_007375.4

p.V255_H256ins1

c.765_766insAGG