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

35 papers

NM_007375.4

p.G384R

c.1150G>C

Surrounding Variants

3 papers

NM_007375.4

p.G384C

c.1150G>T

1 paper

NM_007375.4

p.G384_A388delFs

c.1152_1162del11

9 papers

NM_007375.4

p.I383T

c.1148T>C

1 paper

NM_007375.4

p.W385_A388del4

c.1153_1163del12

106 papers

NM_007375.4

p.I383V

c.1147A>G

35 papers

NM_007375.4

p.W385G

c.1153T>G

2 papers

NM_007375.4

p.W385fs

c.1153_1154fs

1 paper

NM_007375.4

p.A382A

c.1146A>G

1 paper

NM_007375.4

p.I383del1

c.1147_1149delATT

3 papers

NM_007375.4

p.W385*

c.1154G>A

5 papers

NM_007375.4

p.W385L

c.1154G>T

1 paper

NM_007375.4

p.A382_G392del0

c.1146_1175del30