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.E650K

c.1948G>A

Surrounding Variants

1 paper

NM_015569.5

p.R651T

c.1952G>C

1 paper

NM_015569.5

p.R657C

c.1969C>T

1 paper

NM_015569.5

p.R672*

c.2014C>T

1 paper

NM_015569.5

p.H681N

c.2041C>A

1 paper

NM_015569.5

p.N686_V687Splc

c.2059-3713T>C

1 paper

NM_015569.5

p.R718H

c.2153G>A

1 paper

NM_015569.5

p.R724Q

c.2171G>A

1 paper

NM_015569.5

p.G737G

c.2211G>A

1 paper

NM_015569.5

p.T741T

c.2223A>G

3 papers

NM_015569.5

p.P747A

c.2239C>G

1 paper

NM_015569.5

p.D754Y

c.2260G>T

1 paper

NM_015569.5

p.R761C

c.2281C>T