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.F383L

c.1147T>C

Surrounding Variants

1 paper

NM_020812.4

p.F383L

c.1149C>G

1 paper

NM_020812.4

p.F383L

c.1149C>A

1 paper

NM_020812.4

p.E381delFs

c.1141delC

1 paper

NM_020812.4

p.Y390insFs

c.1168_1169insC

1 paper

NM_020812.4

p.Y390C

c.1169A>G

1 paper

NM_020812.4

p.A395T

c.1183G>A

1 paper

NM_020812.4

p.W396*

c.1187G>A

1 paper

NM_020812.4

p.W396*

c.1188G>A

2 papers

NM_020812.4

p.K368_N369Splc

c.1105-1G>T

1 paper

NM_020812.4

p.R413W

c.1237C>T

1 paper

NM_020812.4

p.S415insFs

c.1245dupT

2 papers

NM_020812.4

p.K368_N369Splc

c.1104+2T>C