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

1–12 of 73 variants

3 papers

NM_001939.3

p.A147T

c.439G>A

3 papers

NM_001939.3

p.P269S

c.805C>T

2 papers

NM_001939.3

p.R487H

c.1460G>A

2 papers

NM_001939.3

p.R765Q

c.2294G>A

1 paper

NM_001939.3

p.M1L

c.1A>C

1 paper

NM_001939.3

p.M1L

c.1A>T

1 paper

NM_001939.3

p.M6I

c.18G>A

1 paper

NM_001939.3

p.M6I

c.18G>C

1 paper

NM_001939.3

p.M6I

c.18G>T

1 paper

NM_001939.3

p.R15R

c.45A>T

1 paper

NM_001939.3

p.R32*

c.94C>T

1 paper

NM_001939.3

p.P49L

c.146C>T