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

1 paper

NM_020812.4

p.G1993delFs

c.5979delC

Surrounding Variants

1 paper

NM_020812.4

p.G1993fs

c.5977_5978fs

1 paper

NM_020812.4

p.E2002*

c.6004G>T

1 paper

NM_020812.4

p.R1986W

c.5956C>T

1 paper

NM_020812.4

p.E2004Q

c.6010G>C

1 paper

NM_020812.4

p.R2005H

c.6014G>A

2 papers

NM_020812.4

p.L2033F

c.6097C>T

6 papers

NM_020812.4

p.K1980Splc

c.5939+2T>C

1 paper

NM_020812.4

p.P1958P

c.5874G>A

1 paper

NM_020812.4

p.L1947fs

c.5839_5840fs

1 paper

NM_020812.4

p.L1947delFs

c.5840delA

1 paper

NM_020812.4

p.P1924S

c.5770C>T

1 paper

NM_020812.4

p.R1914Q

c.5741G>A