Varaico: Literature-Extracted Genetic Variants

DRP2

73 papers

RefSeq Summary

Members of the dystrophin family of proteins perform a critical role in the maintenance of membrane-associated complexes at points of intercellular contact in vertebrate cells. The protein encoded by ...

Pfam Domains

Spectrinaa 231–337UCSCSpectrin repeat

WWaa 354–383UCSCWW domain

EF-hand_2aa 386–504UCSCEF hand

Gene Aliases

HGNC Name

dystrophin related protein 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001939.3

p.G345G

c.1035G>A

Surrounding Variants

1 paper

NM_001939.3

p.Q347*

c.1039C>T

1 paper

NM_001939.3

p.V328I

c.982G>A

1 paper

NM_001939.3

p.Q298K

c.892C>A

3 papers

NM_001939.3

p.P269S

c.805C>T

1 paper

NM_001939.3

p.L243P

c.728T>C

1 paper

NM_001939.3

p.Q232*

c.694C>T

1 paper

NM_001939.3

p.R224C

c.670C>T

1 paper

NM_001939.3

p.C219F

c.656G>T

1 paper

NM_001939.3

p.A208D

c.623C>A

1 paper

NM_001939.3

p.D187Splc

c.560-14G>A

1 paper

NM_001939.3

p.N372Splc

c.1115+1G>C

1 paper

NM_001939.3

p.R155W

c.463C>T