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.G337fs

c.1009_1010fs

Surrounding Variants

1 paper

NM_001005361.3

p.Q335H

c.1005G>C

1 paper

NM_001005361.3

p.F336insFs

c.1008dupT

1 paper

NM_001005361.3

p.Q335H

c.1005G>T

1 paper

NM_001005361.3

p.Q335Fs

c.1003delinsGAFs

1 paper

NM_001005361.3

p.Q335*

c.1003C>T

1 paper

NM_001005361.3

p.Q335fs

c.1003_1004fs

1 paper

NM_001005361.3

p.F340fs

c.1018_1019fs

1 paper

NM_001005361.3

p.E341K

c.1021G>A

1 paper

NM_001005361.3

p.I344_E355del12

c.1030_1064del36

4 papers

NM_001005361.3

p.E345K

c.1033G>A

1 paper

NM_001005361.3

p.E345fs

c.1033_1034fs

1 paper

NM_001005361.3

p.G346D

c.1037G>A