Varaico: Literature-Extracted Genetic Variants

DTNB

119 papers

RefSeq Summary

This gene encodes dystrobrevin beta, a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including dys...

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 beta

HGNC Previous Name

dystrobrevin, beta

Papers

RefSeq ID

Protein change

DNA change

1–12 of 96 variants

2 papers

NM_021907.5

p.C39*

c.117C>A

2 papers

NM_021907.5

p.C560S

c.1678T>A

2 papers

NM_021907.5

p.C560S

c.1679G>C

1 paper

NM_021907.5

p.I2I

c.6T>C

1 paper

NM_021907.5

p.G6R

c.16G>C

1 paper

NM_021907.5

p.R9R

c.25C>A

1 paper

NM_021907.5

p.Q17R

c.50A>G

1 paper

NM_021907.5

p.Q17P

c.50A>C

1 paper

NM_021907.5

p.R23S

c.67C>A

1 paper

NM_021907.5

p.A24A

c.72T>C

1 paper

NM_021907.5

p.Q25K

c.73C>A

1 paper

NM_021907.5

p.D28G

c.83A>G