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

1–12 of 95 variants

3 papers

NM_015569.5

p.V129M

c.385G>A

3 papers

NM_015569.5

p.K206N

c.618A>T

3 papers

NM_015569.5

p.E368K

c.1102G>A

3 papers

NM_015569.5

p.P747A

c.2239C>G

2 papers

NM_015569.5

p.E368Q

c.1102G>C

2 papers

NM_015569.5

p.K573N

c.1719G>C

2 papers

NM_015569.5

p.K573N

c.1719G>T

1 paper

NM_015569.5

p.N3I

c.8A>T

1 paper

NM_015569.5

p.E5E

c.15G>A

1 paper

NM_015569.5

p.E8K

c.22G>A

1 paper

NM_015569.5

p.Q17L

c.50A>T

1 paper

NM_015569.5

p.Q25H

c.75G>C