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.L161R

c.482T>G

Surrounding Variants

1 paper

NM_001005361.3

p.Q162K

c.484C>A

1 paper

NM_001005361.3

p.M159T

c.476T>C

1 paper

NM_001005361.3

p.D158A

c.473A>C

1 paper

NM_001005361.3

p.S165G

c.493A>G

1 paper

NM_001005361.3

p.K157N

c.471G>C

1 paper

NM_001005361.3

p.K157N

c.471G>T

1 paper

NM_001005361.3

p.R166W

c.496C>T

1 paper

NM_001005361.3

p.Q155insFs

c.464dupA

1 paper

NM_001005361.3

p.Q155*

c.463C>T

2 papers

NM_001005361.3

p.S168N

c.503G>A

1 paper

NM_001005361.3

p.Y154H

c.460T>C

1 paper

NM_001005361.3

p.S169_L170insFs

c.507_508ins4