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.L115L

c.343C>T

Surrounding Variants

1 paper

NM_001386795.1

p.A117T

c.349G>A

26 papers

NM_001386795.1

p.P121L

c.362C>T

1 paper

NM_001386795.1

p.S107F

c.320C>T

1 paper

NM_001386795.1

p.Q106E

c.316C>G

1 paper

NM_001386795.1

p.I102M

c.306C>G

1 paper

NM_001386795.1

p.Q101L

c.302A>T

1 paper

NM_001386795.1

p.L92H

c.275T>A

1 paper

NM_001386795.1

p.T87I

c.260C>T

1 paper

NM_001386795.1

p.S86S

c.258C>A

1 paper

NM_001386795.1

p.S86Y

c.257C>A

1 paper

NM_001386795.1

p.S86F

c.257C>T

2 papers

NM_001386795.1

p.R80H

c.239G>A