Varaico: Literature-Extracted Genetic Variants

DNM1L

399 papers

RefSeq Summary

This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and peroxisomal division, and is involved in developmentally regulated apoptosis and progra...

Pfam Domains

Dynamin_Naa 28–217UCSCDynamin family

Dynamin_Maa 225–510UCSCDynamin central region

GEDaa 639–730UCSCDynamin GTPase effector domain

Gene Aliases

HGNC Name

dynamin 1 like

HGNC Alias Symbols

DRP1; DVLP; HDYNIV; DYMPLE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012062.5

p.A331G

c.992C>G

Surrounding Variants

1 paper

NM_012062.5

p.T338I

c.1013C>T

1 paper

NM_001278466.2

p.G120S

c.358G>A

1 paper

NM_012062.5

p.Y322Y

c.966C>T

1 paper

NM_012062.5

p.Y322insFs

c.965_966insC

1 paper

NM_012062.5

p.S321N

c.962G>A

1 paper

NM_001278466.2

p.L116Q

c.347T>A

1 paper

NM_012062.5

p.L318H

c.953T>A

2 papers

NM_012062.5

p.C345_N346del2

c.1033_1037del6

1 paper

NM_012062.5

p.N346_T347del2

c.1036_1040del6

1 paper

NM_012062.5

p.T347I

c.1040C>T

1 paper

NM_012062.5

p.Q314*

c.940C>T

1 paper

NM_001278464.2

p.E362K

c.1084G>A