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

1 paper

NM_001005361.3

p.K445_L446Splc

c.1336-1G>A

Surrounding Variants

1 paper

NM_001005361.3

p.Y449insFs

c.1347dupC

1 paper

NM_001005361.3

p.R451Q

c.1352G>A

1 paper

NM_001005361.3

p.R451L

c.1352G>T

4 papers

NM_001005361.3

p.R453*

c.1357C>T

1 paper

NM_001005361.3

p.E454K

c.1360G>A

1 paper

NM_001005361.3

p.R458*

c.1372C>T

2 papers

NM_001005361.3

p.R458Q

c.1373G>A

3 papers

NM_001005361.3

p.T462A

c.1384A>G

116 papers

NM_001005361.3

p.R465W

c.1393C>T

2 papers

NM_001005361.3

p.E466insFs

c.1397dupA

2 papers

NM_001005361.3

p.E466fs

c.1396_1397fs

1 paper

NM_001005361.3

p.R467W

c.1399C>T