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.E379*

c.1135G>T

Surrounding Variants

6 papers

NM_012062.5

p.E379K

c.1135G>A

1 paper

NM_012062.5

p.S380A

c.1138T>G

1 paper

NM_012062.5

p.D382_P383del2

c.1144_1148del6

1 paper

NM_012062.5

p.L384_G385del2

c.1150_1154del6

6 papers

NM_012062.5

p.G385_G386del2

c.1153_1157del6

5 papers

NM_012062.5

p.G385D

c.1154G>A

1 paper

NM_012062.5

p.G385_G386insFs

c.1155_1156insA

1 paper

NM_012062.5

p.G386C

c.1156G>T

2 papers

NM_012062.5

p.G386D

c.1157G>A

1 paper

NM_012062.5

p.G386A

c.1157G>C

1 paper

NM_012062.5

p.H371P

c.1112A>C

1 paper

NM_001278464.2

p.E385_T386del2

c.1153_1157del6