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

56 papers

NM_001005361.3

p.S619L

c.1856C>T

Surrounding Variants

21 papers

NM_001005361.3

p.S619W

c.1856C>G

1 paper

NM_001005361.3

p.S619A

c.1855T>G

15 papers

NM_001005361.3

p.A618D

c.1853C>A

36 papers

NM_001005361.3

p.A618T

c.1852G>A

16 papers

NM_001005361.3

p.L621P

c.1862T>C

1 paper

NM_001005361.3

p.R622*

c.1864C>T

1 paper

NM_001005361.3

p.R622R

c.1866A>C

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

14 papers

NM_001005361.3

p.D614N

c.1840G>A

4 papers

NM_001005361.3

p.P627A

c.1879C>G