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.K269Splc

c.807-282C>T

Surrounding Variants

3 papers

NM_020812.4

p.K269Splc

c.807-1G>A

1 paper

NM_020812.4

p.E271K

c.811G>A

1 paper

NM_020812.4

p.S293S

c.879G>A

1 paper

NM_020812.4

p.N295N

c.885C>T

1 paper

NM_020812.4

p.R310W

c.928C>T

1 paper

NM_020812.4

p.H315H

c.945C>T

1 paper

NM_020812.4

p.I318N

c.953T>A

1 paper

NM_020812.4

p.R323H

c.968G>A

1 paper

NM_020812.4

p.P332P

c.996C>A

1 paper

NM_020812.4

p.K341_L342Splc

c.1023+1G>T

1 paper

NM_020812.4

p.C265_L266Fs

c.794_797delinsCCFs

1 paper

NM_020812.4

p.C265insFs

c.794dupG