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.S596A

c.1786T>G

Surrounding Variants

1 paper

NM_012062.5

p.T595A

c.1783A>G

1 paper

NM_001278466.2

p.L390Q

c.1169T>A

1 paper

NM_012062.5

p.E600Q

c.1798G>C

1 paper

NM_012062.5

p.T586K

c.1757C>A

2 papers

NM_005690.5

p.T549A

c.1645A>G

NM_012062.5

p.T586A

c.1756A>G

2 papers

NM_005690.5

p.T548A

c.1642A>G

NM_012062.5

p.T585A

c.1753A>G

1 paper

NM_012062.5

p.E583fs

c.1747_1748fs

1 paper

NM_001278466.2

p.P411L

c.1232C>T

1 paper

NM_012062.5

p.G620insFs

c.1859_1860insC

1 paper

NM_012062.5

p.P629L

c.1886C>T

4 papers

NM_012062.5

p.S637A

c.1909T>G

1 paper

NM_012062.5

p.L650R

c.1949T>G