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

1–12 of 582 variants

116 papers

NM_001005361.3

p.R465W

c.1393C>T

66 papers

NM_001005361.3

p.E368K

c.1102G>A

56 papers

NM_001005361.3

p.S619L

c.1856C>T

47 papers

NM_001005361.3

p.R369W

c.1105C>T

47 papers

NM_001005361.3

p.R369Q

c.1106G>A

42 papers

NM_001005361.3

p.R522H

c.1565G>A

36 papers

NM_001005361.3

p.A618T

c.1852G>A

33 papers

NM_001005361.3

p.K562E

c.1684A>G

23 papers

NM_001005361.3

p.G358R

c.1072G>A

23 papers

NM_001005361.3

p.G358R

c.1072G>C

22 papers

NM_001005361.3

p.G537C

c.1609G>T

21 papers

NM_001005361.3

p.M179I

c.537G>C