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

20 papers

NM_012062.5

p.G362S

c.1084G>A

Surrounding Variants

25 papers

NM_012062.5

p.G362D

c.1085G>A

2 papers

NM_012062.5

p.G363S

c.1087G>A

9 papers

NM_012062.5

p.G363D

c.1088G>A

1 paper

NM_012062.5

p.R365S

c.1095A>C

1 paper

NM_012062.5

p.R365S

c.1095A>T

5 papers

NM_012062.5

p.F370C

c.1109T>G

1 paper

NM_012062.5

p.H371N

c.1111C>A

1 paper

NM_012062.5

p.H371P

c.1112A>C

1 paper

NM_001278464.2

p.E385_T386del2

c.1153_1157del6

6 papers

NM_012062.5

p.E379K

c.1135G>A

1 paper

NM_012062.5

p.E379*

c.1135G>T

1 paper

NM_012062.5

p.S380A

c.1138T>G