Varaico: Literature-Extracted Genetic Variants

DTNA

177 papers

RefSeq Summary

The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystr...

Pfam Domains

EF-hand_2aa 16–140UCSCEF hand

EF-hand_3aa 144–232UCSCEF-hand

ZZaa 238–282UCSCZinc finger, ZZ type

Gene Aliases

HGNC Name

dystrobrevin alpha

HGNC Alias Symbols

D18S892E; DTN; DTN-1; DTN-2; DTN-3; DRP3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001386795.1

p.L18L

c.54G>A

Surrounding Variants

2 papers

NM_001386795.1

p.R23insFs

c.67_68insG

1 paper

NM_001386795.1

p.M12I

c.36G>A

1 paper

NM_001386795.1

p.G6A

c.17G>C

1 paper

NM_001386795.1

p.D4V

c.11A>T

1 paper

NM_001386795.1

p.M1T

c.2T>C

1 paper

NM_001386795.1

p.M1V

c.1A>G

1 paper

NM_001386795.1

p.R23Splc

c.68-7G>A

2 papers

NM_001386795.1

p.A24insFs

c.70_71insG

1 paper

NM_001386795.1

p.R29C

c.85C>T

1 paper

NM_001386795.1

p.R29H

c.86G>A

1 paper

NM_001386795.1

p.R29R

c.87C>A

2 papers

NM_001386795.1

p.R31Q

c.92G>A