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

3 papers

NM_012062.5

p.T115I

c.344C>T

Surrounding Variants

1 paper

NM_012062.5

p.T115R

c.344C>G

11 papers

NM_012062.5

p.T115_E116delFs

c.345_346delAG

NM_001278464.2

p.E116delFs

c.346_347delGA

1 paper

NM_012062.5

p.T115fs

c.343_344fs

3 papers

NM_001278464.2

p.E129K

c.385G>A

NM_012062.5

p.E116K

c.346G>A

2 papers

NM_012062.5

p.E116fs

c.346_347fs

12 papers

NM_012062.5

p.E116fs

c.346_347fs

1 paper

NM_012062.5

p.E116V

c.347A>T

1 paper

NM_012062.5

p.S119S

c.357A>T

2 papers

NM_012062.5

p.G120R

c.358G>A

1 paper

NM_012062.5

p.G120E

c.359G>A

1 paper

NM_012062.5

p.G120G

c.360A>G

1 paper

NM_012062.5

p.E110Q

c.328G>C