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.P76S

c.226C>T

Surrounding Variants

1 paper

NM_001939.3

p.C82fs

c.244_245fs

1 paper

NM_001939.3

p.G69S

c.205G>A

1 paper

NM_001939.3

p.R94P

c.281G>C

1 paper

NM_001939.3

p.P49L

c.146C>T

1 paper

NM_001939.3

p.R96C

c.286C>T

1 paper

NM_001939.3

p.L97P

c.290T>C

1 paper

NM_001939.3

p.D134Y

c.400G>T

3 papers

NM_001939.3

p.A147T

c.439G>A

1 paper

NM_001939.3

p.S154F

c.461C>T

1 paper

NM_001939.3

p.R155W

c.463C>T

1 paper

NM_001939.3

p.R32*

c.94C>T

1 paper

NM_001939.3

p.R15R

c.45A>T