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

12 papers

NM_001005361.3

p.K559del1

c.1675_1676delAAA

Surrounding Variants

21 papers

NM_001005361.3

p.E560K

c.1678G>A

14 papers

NM_001005361.3

p.K562del1

c.1684_1686delAAG

NM_004945.4

p.K558del1

c.1684_1685delAAG

35 papers

NM_001005361.3

p.K562E

c.1684A>G

NM_004945.4

p.K558E

c.1672A>G

1 paper

NM_001005361.3

p.M564I

c.1692G>A

1 paper

NM_001005361.3

p.M564I

c.1692G>C

1 paper

NM_001005361.3

p.M564I

c.1692G>T

1 paper

NM_001005361.3

p.L567P

c.1700T>C

1 paper

NM_001005361.3

p.N569delFs

c.1706delA

15 papers

NM_001005361.3

p.L570H

c.1709T>A

NM_004945.4

p.L566H

c.1697T>A

1 paper

NM_001005361.3

p.E576K

c.1726G>A

1 paper

NM_001005361.3

p.E576*

c.1726G>T

7 papers

NM_001005361.3

p.M580T

c.1739T>C