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.V596I

c.1786G>A

Surrounding Variants

1 paper

NM_001005361.3

p.V596L

c.1786G>C

1 paper

NM_001005361.3

p.Y597N

c.1789T>A

3 papers

NM_001005361.3

p.Y597F

c.1790A>T

1 paper

NM_001005361.3

p.R594Splc

c.1782-7C>A

1 paper

NM_001005361.3

p.D599_L600insFs

c.1797_1798ins4

1 paper

NM_001005361.3

p.L600fs

c.1798_1799fs

2 papers

NM_001005361.3

p.R601W

c.1801C>T

2 papers

NM_001005361.3

p.E604K

c.1810G>A

1 paper

NM_001005361.3

p.D608N

c.1822G>A

1 paper

NM_001005361.3

p.S609C

c.1826C>G

1 paper

NM_001005361.3

p.Q610H

c.1830G>C

1 paper

NM_001005361.3

p.Q610H

c.1830G>T