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

2 papers

NM_020812.4

p.R63Q

c.188G>A

Surrounding Variants

1 paper

NM_020812.4

p.P65L

c.194C>T

1 paper

NM_020812.4

p.P69S

c.205C>T

1 paper

NM_020812.4

p.L72_R73insFs

c.216_217insA

1 paper

NM_020812.4

p.L54M

c.160C>A

1 paper

NM_020812.4

p.L75P

c.224T>C

1 paper

NM_020812.4

p.V50I

c.148G>A

2 papers

NM_020812.4

p.T48_E49delFs

c.143_146del4

1 paper

NM_020812.4

p.T48fs

c.142_143fs

1 paper

NM_020812.4

p.T48fs

c.142_143fs

4 papers

NM_020812.4

p.V45I

c.133G>A

1 paper

NM_020812.4

p.R90W

c.268C>T

1 paper

NM_020812.4

p.R93Q

c.278G>A