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

1–12 of 277 variants

32 papers

NM_012062.5

p.R403C

c.1207C>T

31 papers

NM_012062.5

p.A395D

c.1184C>A

25 papers

NM_012062.5

p.G362D

c.1085G>A

20 papers

NM_012062.5

p.G362S

c.1084G>A

13 papers

NM_012062.5

p.G350R

c.1048G>A

13 papers

NM_012062.5

p.G350R

c.1048G>C

12 papers

NM_012062.5

p.S36G

c.106A>G

12 papers

NM_012062.5

p.E116fs

c.346_347fs

12 papers

NM_012062.5

p.A192E

c.575C>A

10 papers

NM_012062.5

p.T115_E116delFs

c.345_346delAG

10 papers

NM_012062.5

p.Y691C

c.2072A>G

9 papers

NM_012062.5

p.G363D

c.1088G>A