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

2 papers

NM_001386795.1

p.R31Q

c.92G>A

Surrounding Variants

1 paper

NM_001386795.1

p.R31R

c.93A>T

1 paper

NM_001386795.1

p.R29R

c.87C>A

1 paper

NM_001386795.1

p.R29H

c.86G>A

1 paper

NM_001386795.1

p.R29C

c.85C>T

1 paper

NM_001386795.1

p.T34I

c.101C>T

1 paper

NM_001386795.1

p.T37A

c.109A>G

2 papers

NM_001386795.1

p.A24insFs

c.70_71insG

1 paper

NM_001386795.1

p.R23Splc

c.68-7G>A

1 paper

NM_001386795.1

p.Q45_K46Fs

c.134_136delinsCCFs

5 papers

NM_001386795.1

p.N49S

c.146A>G

2 papers

NM_001386795.1

p.R23insFs

c.67_68insG

1 paper

NM_001386795.1

p.L18L

c.54G>A