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.K573N

c.1719G>T

Surrounding Variants

2 papers

NM_015569.5

p.K573N

c.1719G>C

1 paper

NM_015569.5

p.K567E

c.1699A>G

1 paper

NM_015569.5

p.Q589K

c.1765C>A