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

2 papers

NM_015569.5

p.E368Q

c.1102G>C

Surrounding Variants

3 papers

NM_015569.5

p.E368K

c.1102G>A

1 paper

NM_015569.5

p.R364S

c.1090C>A

1 paper

NM_015569.5

p.F372C

c.1115T>G

1 paper

NM_015569.5

p.V375G

c.1124T>G

1 paper

NM_015569.5

p.G358R

c.1072G>C

1 paper

NM_015569.5

p.L356F

c.1066C>T

1 paper

NM_015569.5

p.E355A

c.1064A>C

1 paper

NM_015569.5

p.T353A

c.1057A>G

1 paper

NM_015569.5

p.V351A

c.1052T>C

1 paper

NM_015569.5

p.E341D

c.1023G>C

1 paper

NM_015569.5

p.E341D

c.1023G>T

1 paper

NM_015569.5

p.E378D

c.1134G>C