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

5 papers

NM_012062.5

p.C431Y

c.1292G>A

Surrounding Variants

1 paper

NM_012062.5

p.C431F

c.1292G>T

1 paper

NM_012062.5

p.R430C

c.1288C>T

1 paper

NM_012062.5

p.E433A

c.1298A>C

2 papers

NM_012062.5

p.E426A

c.1277A>C

1 paper

NM_012062.5

p.K422_R423delFs

c.1266_1267delAC

8 papers

NM_012062.5

p.C446F

c.1337G>T

3 papers

NM_012062.5

p.L416P

c.1247T>C

NM_001278466.2

p.L213P

c.638T>C

1 paper

NM_012062.5

p.S412A

c.1234T>G

5 papers

NM_012062.5

p.E410K

c.1228G>A

8 papers

NM_012062.5

p.L406S

c.1217T>C

1 paper

NM_012062.5

p.L406*

c.1217T>G

1 paper

NM_012062.5

p.R403H

c.1208G>A