Varaico: Literature-Extracted Genetic Variants

DOCK5

142 papers

RefSeq Summary

This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family act as guanine nucleotide exchange factors for small Rho family G proteins. The protein encoded by thi...

Pfam Domains

SH3_1aa 14–55UCSCSH3 domain

DOCK_Naa 71–434UCSCDOCK N-terminus

DOCK-C2aa 439–636UCSCC2 domain in Dock180 and Zizimin proteins

TPR_DOCKaa 646–1175UCSCDedicator of cytokinesis (DOCK) TPR region

DHR-2_Lobe_Aaa 1223–1354UCSCDHR-2, Lobe A

DHR-2_Lobe_Baa 1411–1494UCSCDHR-2, Lobe B

Gene Aliases

HGNC Name

dedicator of cytokinesis 5

HGNC Alias Symbol

FLJ21034

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_024940.8

p.R291Q

c.872G>A

Surrounding Variants

1 paper

NM_024940.8

p.V297M

c.889G>A

1 paper

NM_024940.8

p.C298C

c.894C>T

1 paper

NM_024940.8

p.D283N

c.847G>A

1 paper

NM_024940.8

p.V303M

c.907G>A

1 paper

NM_024940.8

p.P321_F322insAA

c.961_965ins6

1 paper

NM_024940.8

p.T282_D283Splc

c.847-71A>G

1 paper

NM_024940.8

p.F281L

c.843T>G

1 paper

NM_024940.8

p.I271M

c.813A>G

1 paper

NM_024940.8

p.G266R

c.796G>A

1 paper

NM_024940.8

p.G266R

c.796G>C

1 paper

NM_024940.8

p.N265I

c.794A>T

1 paper

NM_024940.8

p.M327T

c.980T>C