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

79 papers

NM_007375.4

p.Y374*

c.1122T>G

Surrounding Variants

78 papers

NM_007375.4

p.Y374*

c.1122T>A

1 paper

NM_007375.4

p.Y374Y

c.1122T>C

26 papers

NM_007375.4

p.S375G

c.1123A>G

3 papers

NM_007375.4

p.Y374F

c.1121A>T

3 papers

NM_007375.4

p.Y374insFs

c.1121_1122insA

3 papers

NM_007375.4

p.S373_Y374delFs

c.1119_1120delTT

62 papers

NM_007375.4

p.G376D

c.1127G>A

1 paper

NM_007375.4

p.G376A

c.1127G>C

5 papers

NM_007375.4

p.G376V

c.1127G>T

1 paper

NM_007375.4

p.G376G

c.1128C>T

3 papers

NM_007375.4

p.S377T

c.1129T>A

1 paper

NM_007375.4

p.N372insFs

c.1114_1115insC