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

2 papers

NM_012062.5

p.R76W

c.226C>T

Surrounding Variants

2 papers

NM_012062.5

p.K75E

c.223A>G

1 paper

NM_012062.5

p.K77R

c.230A>G

1 paper

NM_012062.5

p.D74Y

c.220G>T

1 paper

NM_012062.5

p.G80_E81del1

c.239_241delGAG

1 paper

NM_001278466.2

p.Q11R

c.32A>G

1 paper

NM_012062.5

p.Q72*

c.214C>T

1 paper

NM_012062.5

p.E81A

c.242A>C

1 paper

NM_001278466.2

p.M1_F2insFs

c.3_4insA

1 paper

NM_012062.5

p.E82A

c.245A>C

2 papers

NM_012062.5

p.R61S

c.183A>T

3 papers

NM_012062.5

p.T59N

c.176C>A

2 papers

NM_012062.5

p.T59I

c.176C>T