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

2 papers

NM_001005361.3

p.L354P

c.1061T>C

Surrounding Variants

2 papers

NM_001005361.3

p.E355G

c.1064A>G

2 papers

NM_001005361.3

p.T353S

c.1058C>G

2 papers

NM_001005361.3

p.T353S

c.1057A>T

4 papers

NM_001005361.3

p.S357F

c.1070C>T

1 paper

NM_001005361.3

p.V351A

c.1052T>C

1 paper

NM_001005361.3

p.V351M

c.1051G>A

23 papers

NM_001005361.3

p.G358R

c.1072G>A

23 papers

NM_001005361.3

p.G358R

c.1072G>C

1 paper

NM_001005361.3

p.G359R

c.1075G>C

7 papers

NM_001005361.3

p.G359D

c.1076G>A

1 paper

NM_001005361.3

p.G359G

c.1077C>T

2 papers

NM_001005361.3

p.R361*

c.1081C>T