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.K554R

c.1661A>G

Surrounding Variants

10 papers

NM_001005361.3

p.K554fs

c.1660_1661fs

NM_004945.4

p.K550fs

c.1648_1649fs

1 paper

NM_001005361.3

p.D555insFs

c.1663_1664insT

4 papers

NM_001005361.3

p.E557del1

c.1669_1670delGAG

1 paper

NM_001005361.3

p.E556_E557del2

c.1666_1670del6

3 papers

NM_001005361.3

p.E556K

c.1666G>A

1 paper

NM_004945.4

p.W548_Y549insFs

c.1644_1645insT

1 paper

NM_001005361.3

p.L550fs

c.1648_1649fs

1 paper

NM_001005361.3

p.L545L

c.1635G>C

1 paper

NM_001005361.3

p.L545L

c.1635G>T

1 paper

NM_001005361.3

p.E540A

c.1619A>C

1 paper

NM_001005361.3

p.E540G

c.1619A>G

1 paper

NM_001005361.3

p.Y541_F543del0

c.1622_1627del6