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.L50V

c.148C>G

Surrounding Variants

1 paper

NM_012062.5

p.L50P

c.149T>C

1 paper

NM_012062.5

p.L51P

c.152T>C

1 paper

NM_012062.5

p.P52L

c.155C>T

1 paper

NM_012062.5

p.R53K

c.158G>A

1 paper

NM_012062.5

p.T55I

c.164C>T

1 paper

NM_012062.5

p.S44N

c.131G>A

1 paper

NM_012062.5

p.T59A

c.175A>G

2 papers

NM_012062.5

p.V41M

c.121G>A

1 paper

NM_012062.5

p.S40S

c.120A>C

3 papers

NM_012062.5

p.T59N

c.176C>A

2 papers

NM_012062.5

p.T59I

c.176C>T

1 paper

NM_012062.5

p.S40A

c.118T>G