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

16 papers

NM_001005361.3

p.E368Q

c.1102G>C

Surrounding Variants

66 papers

NM_001005361.3

p.E368K

c.1102G>A

1 paper

NM_001005361.3

p.E368V

c.1103A>T

1 paper

NM_001005361.3

p.R369G

c.1105C>G

47 papers

NM_001005361.3

p.R369W

c.1105C>T

47 papers

NM_001005361.3

p.R369Q

c.1106G>A

1 paper

NM_001005361.3

p.R369L

c.1106G>T

2 papers

NM_001005361.3

p.I365V

c.1093A>G

1 paper

NM_001005361.3

p.R364H

c.1091G>A

1 paper

NM_001005361.3

p.R364P

c.1091G>C

5 papers

NM_001005361.3

p.R364C

c.1090C>T

1 paper

NM_001005361.3

p.F372Y

c.1115T>A

3 papers

NM_001005361.3

p.F372S

c.1115T>C