Varaico: Literature-Extracted Genetic Variants

DOCK6

230 papers

RefSeq Summary

This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are compon...

Pfam Domains

DOCK_C-D_Naa 48–157UCSCDedicator of cytokinesis C/D, N terminal

DOCK-C2aa 544–723UCSCC2 domain in Dock180 and Zizimin proteins

TPR_DOCK9aa 897–1049UCSCDOCK9-like, TPR repeats

DHR-2_Lobe_Aaa 1580–1739UCSCDHR-2, Lobe A

DHR-2_Lobe_Baa 1805–1881UCSCDHR-2, Lobe B

DHR-2_Lobe_Caa 1915–2017UCSCDHR-2, Lobe C

Gene Aliases

HGNC Name

dedicator of cytokinesis 6

HGNC Alias Symbols

KIAA1395; ZIR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_020812.4

p.G702S

c.2104G>A

Surrounding Variants

1 paper

NM_020812.4

p.T712T

c.2136A>G

1 paper

NM_020812.4

p.V714L

c.2140G>T

1 paper

NM_020812.4

p.V714L

c.2140G>C

1 paper

NM_020812.4

p.F728delFs

c.2184delG

1 paper

NM_020812.4

p.E750K

c.2248G>A

1 paper

NM_020812.4

p.R765S

c.2293C>A

1 paper

NM_020812.4

p.R765H

c.2294G>A

1 paper

NM_020812.4

p.E770K

c.2308G>A

1 paper

NM_020812.4

p.E770insFs

c.2309_2310insC

1 paper

NM_020812.4

p.P771A

c.2311C>G

2 papers

NM_020812.4

p.L780M

c.2338C>A

1 paper

NM_020812.4

p.P791P

c.2373G>A