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.V184A

c.551T>C

Surrounding Variants

1 paper

NM_012062.5

p.A183A

c.549T>A

2 papers

NM_012062.5

p.A183T

c.547G>A

1 paper

NM_001278464.2

p.S192Y

c.575C>A

1 paper

NM_001278464.2

p.D203N

c.607G>A

3 papers

NM_012062.5

p.D190A

c.569A>C

12 papers

NM_012062.5

p.A192E

c.575C>A

1 paper

NM_012062.5

p.N176Y

c.526A>T

1 paper

NM_012062.5

p.S194*

c.581C>A

1 paper

NM_012062.5

p.S194*

c.581C>G

3 papers

NM_012062.5

p.L171I

c.511C>A

2 papers

NM_012062.5

p.L169I

c.505C>A

1 paper

NM_012062.5

p.R167G

c.499A>G