Varaico: Literature-Extracted Genetic Variants

DNM3

108 papers

RefSeq Summary

This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with microtubules and are involved in vesicular transport. The encoded protein functions in the d...

Pfam Domains

Dynamin_Naa 34–207UCSCDynamin family

Dynamin_Maa 215–502UCSCDynamin central region

PHaa 526–630UCSCPH domain

GEDaa 654–745UCSCDynamin GTPase effector domain

Gene Aliases

HGNC Name

dynamin 3

HGNC Alias Symbol

KIAA0820

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_015569.5

p.K206N

c.618A>T

Surrounding Variants

1 paper

NM_015569.5

p.D218H

c.652G>C

1 paper

NM_015569.5

p.E221D

c.663G>C

1 paper

NM_015569.5

p.E221D

c.663G>T

1 paper

NM_015569.5

p.R228C

c.682C>T

1 paper

NM_015569.5

p.V234G

c.701T>G

1 paper

NM_015569.5

p.M252I

c.756G>A

1 paper

NM_015569.5

p.M252I

c.756G>C

1 paper

NM_015569.5

p.M252I

c.756G>T

1 paper

NM_015569.5

p.F259F

c.777C>T

1 paper

NM_015569.5

p.R271*

c.811C>T

1 paper

NM_015569.5

p.Q283_Q284Splc

c.849+16C>T

1 paper

NM_015569.5

p.T323S

c.967A>T