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.M51I

c.153G>C

Surrounding Variants

2 papers

NM_007375.4

p.R52delFs

c.154delA

2 papers

NM_007375.4

p.R52G

c.154A>G

15 papers

NM_007375.4

p.C50S

c.149G>C

1 paper

NM_007375.4

p.G53D

c.158G>A

13 papers

NM_007375.4

p.C50S

c.148T>A

1 paper

NM_007375.4

p.G53G

c.159T>C

1 paper

NM_007375.4

p.R55R

c.163C>A

4 papers

NM_007375.4

p.S48A

c.142T>G

1 paper

NM_007375.4

p.V47delFs

c.139delG

2 papers

NM_007375.4

p.V57I

c.169G>A

2 papers

NM_007375.4

p.V57E

c.170T>A

1 paper

NM_007375.4

p.V57A

c.170T>C