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

1–12 of 142 variants

26 papers

NM_001386795.1

p.P121L

c.362C>T

5 papers

NM_001386795.1

p.N49S

c.146A>G

3 papers

NM_001386795.1

p.L70L

c.210G>A

3 papers

NM_001386795.1

p.R172Q

c.515G>A

3 papers

NM_001386795.1

p.K176R

c.527A>G

2 papers

NM_001386795.1

p.R23insFs

c.67_68insG

2 papers

NM_001386795.1

p.A24insFs

c.70_71insG

2 papers

NM_001386795.1

p.R31Q

c.92G>A

2 papers

NM_001386795.1

p.R80H

c.239G>A

2 papers

NM_001386795.1

p.L115L

c.343C>T

2 papers

NM_001386795.1

p.S128L

c.383C>T

2 papers

NM_001386795.1

p.R149*

c.445A>T