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

1 paper

NM_015569.5

p.I118K

c.353T>A

Surrounding Variants

1 paper

NM_015569.5

p.N112T

c.335A>C

1 paper

NM_015569.5

p.R107R

c.321C>T

3 papers

NM_015569.5

p.V129M

c.385G>A

1 paper

NM_015569.5

p.I101T

c.302T>C

1 paper

NM_015569.5

p.E96G

c.287A>G

1 paper

NM_015569.5

p.D93N

c.277G>A

1 paper

NM_015569.5

p.H85Q

c.255T>A

1 paper

NM_015569.5

p.H85Q

c.255T>G

1 paper

NM_015569.5

p.T141A

c.421A>G