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.S158T

c.472T>A

Surrounding Variants

1 paper

NM_001386795.1

p.D157Fs

c.469delinsCAFs

1 paper

NM_001386795.1

p.G160R

c.478G>A

1 paper

NM_001386795.1

p.V161M

c.481G>A

1 paper

NM_001386795.1

p.V161A

c.482T>C

1 paper

NM_001386795.1

p.R172W

c.514C>T

3 papers

NM_001386795.1

p.R172Q

c.515G>A

1 paper

NM_001386795.1

p.V174I

c.520G>A

1 paper

NM_001386795.1

p.V174delFs

c.521delT

1 paper

NM_001386795.1

p.L175_L177delFs

c.523_529del7

3 papers

NM_001386795.1

p.K176R

c.527A>G

1 paper

NM_001386795.1

p.T179T

c.537G>A

1 paper

NM_001386795.1

p.S186T

c.556T>A