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.Q631_A632Splc

c.1893+1G>A

Surrounding Variants

1 paper

NM_001005361.3

p.Q631*

c.1891C>T

2 papers

NM_001005361.3

p.D630D

c.1890C>T

1 paper

NM_001005361.3

p.P627P

c.1881C>A

16 papers

NM_001005361.3

p.P627H

c.1880C>A

9 papers

NM_001005361.3

p.P627R

c.1880C>G

4 papers

NM_001005361.3

p.P627A

c.1879C>G

1 paper

NM_001005361.3

p.G624insFs

c.1872dupC

3 papers

NM_001005361.3

p.G624V

c.1871G>T

15 papers

NM_001005361.3

p.V625del1

c.1873_1874delGTC

1 paper

NM_001005361.3

p.R622R

c.1866A>C

1 paper

NM_001005361.3

p.R622*

c.1864C>T

16 papers

NM_001005361.3

p.L621P

c.1862T>C