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.K38N

c.114G>T

Surrounding Variants

1 paper

NM_012062.5

p.K38N

c.114G>C

1 paper

NM_012062.5

p.S39R

c.115A>C

5 papers

NM_012062.5

p.S39G

c.115A>G

5 papers

NM_012062.5

p.K38E

c.112A>G

7 papers

NM_012062.5

p.S39N

c.116G>A

1 paper

NM_012062.5

p.S39I

c.116G>T

1 paper

NM_012062.5

p.S39R

c.117C>A

1 paper

NM_012062.5

p.S39R

c.117C>G

1 paper

NM_012062.5

p.S40A

c.118T>G

1 paper

NM_012062.5

p.S40S

c.120A>C

2 papers

NM_012062.5

p.V41M

c.121G>A

12 papers

NM_012062.5

p.S36G

c.106A>G