Varaico: Literature-Extracted Genetic Variants

DNM2

786 papers

RefSeq Summary

Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. ...

Pfam Domains

Dynamin_Naa 34–207UCSCDynamin family

Dynamin_Maa 215–502UCSCDynamin central region

PHaa 520–624UCSCPH domain

GEDaa 648–739UCSCDynamin GTPase effector domain

Gene Aliases

HGNC Name

dynamin 2

HGNC Alias Symbols

DYNII; DYN2; CMTDIB; CMTDI1; DI-CMTB; CMT2M

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

43 papers

NM_001005361.3

p.R522H

c.1565G>A

NM_004945.4

p.R518H

c.1553G>A

Surrounding Variants

1 paper

NM_001005361.3

p.R522ins1

c.1565_1566insGGA

1 paper

NM_001005361.3

p.R522L

c.1565G>T

7 papers

NM_001005361.3

p.R522C

c.1564C>T

12 papers

NM_001005361.3

p.R523G

c.1567A>G

4 papers

NM_001005361.3

p.V520G

c.1559T>G

1 paper

NM_001005361.3

p.W525L

c.1574G>T

1 paper

NM_001005361.3

p.L526delFs

c.1578delG

1 paper

NM_001005361.3

p.T527_I528delFs

c.1579_1582del4

1 paper

NM_001005361.3

p.K535R

c.1604A>G

6 papers

NM_001005361.3

p.G537S

c.1609G>A

1 paper

NM_001005361.3

p.G537R

c.1609G>C

23 papers

NM_001005361.3

p.G537C

c.1609G>T

NM_004945.4

p.G533C

c.1597G>T