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_001278466.2

p.L492V

c.1474T>G

Surrounding Variants

1 paper

NM_012062.5

p.S694A

c.2080T>G

10 papers

NM_012062.5

p.Y691C

c.2072A>G

1 paper

NM_001278464.2

p.Q721*

c.2161C>T

6 papers

NM_012062.5

p.R710G

c.2128A>G

1 paper

NM_012062.5

p.K711Q

c.2131A>C

1 paper

NM_012062.5

p.K711R

c.2132A>G

1 paper

NM_001278466.2

p.E509A

c.1526A>C

1 paper

NM_012062.5

p.P667R

c.2000C>G

1 paper

NM_012062.5

p.S665Splc

c.1995-2A>G

3 papers

NM_012062.5

p.Q721*

c.2161C>T

1 paper

NM_012062.5

p.L656L

c.1968C>T

1 paper

NM_012062.5

p.L650R

c.1949T>G