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.Q413H

c.1239G>C

Surrounding Variants

1 paper

NM_001939.3

p.Q413H

c.1239G>T

1 paper

NM_001939.3

p.Q413R

c.1238A>G

1 paper

NM_001939.3

p.K414T

c.1241A>C

1 paper

NM_001939.3

p.E432*

c.1294G>T

1 paper

NM_001939.3

p.E456K

c.1366G>A

1 paper

NM_001939.3

p.R462T

c.1385G>C

1 paper

NM_001939.3

p.V466F

c.1396G>T

1 paper

NM_001939.3

p.V482I

c.1444G>A

1 paper

NM_001939.3

p.R487C

c.1459C>T

2 papers

NM_001939.3

p.R487H

c.1460G>A

1 paper

NM_001939.3

p.N372Splc

c.1115+1G>C

1 paper

NM_001939.3

p.G532V

c.1595G>T