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.P302S

c.904C>T

Surrounding Variants

1 paper

NM_012062.5

p.P302L

c.905C>T

1 paper

NM_012062.5

p.K305Q

c.913A>C

1 paper

NM_012062.5

p.K305R

c.914A>G

1 paper

NM_012062.5

p.T306A

c.916A>G

1 paper

NM_012062.5

p.R298*

c.892A>T

2 papers

NM_012062.5

p.T306T

c.918A>G

1 paper

NM_012062.5

p.H296Y

c.886C>T

1 paper

NM_012062.5

p.A313D

c.938C>A

1 paper

NM_012062.5

p.Q314*

c.940C>T

1 paper

NM_012062.5

p.L318H

c.953T>A

1 paper

NM_001278466.2

p.L116Q

c.347T>A

1 paper

NM_012062.5

p.S321N

c.962G>A