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

4 papers

NM_020812.4

p.R841fs

c.2521_2522fs

Surrounding Variants

4 papers

NM_020812.4

p.F840insFs

c.2520dupT

1 paper

NM_020812.4

p.R841fs

c.2521_2522fs

1 paper

NM_020812.4

p.V836D

c.2507T>A

1 paper

NM_020812.4

p.Y835*

c.2505C>G

2 papers

NM_020812.4

p.Y835*

c.2505C>A

1 paper

NM_020812.4

p.G827S

c.2479G>A

1 paper

NM_020812.4

p.R826H

c.2477G>A

1 paper

NM_020812.4

p.S813_L814delFs

c.2437_2440del4

1 paper

NM_020812.4

p.V812I

c.2434G>A

1 paper

NM_020812.4

p.R802H

c.2405G>A

1 paper

NM_020812.4

p.V798V

c.2394G>A

1 paper

NM_020812.4

p.P791P

c.2373G>A