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.G432_P433Fs

c.1296_1297delinsTFs

Surrounding Variants

4 papers

NM_020812.4

p.Q434fs

c.1300_1301fs

2 papers

NM_020812.4

p.Q434delFs

c.1300delG

1 paper

NM_020812.4

p.R431L

c.1292G>T

2 papers

NM_020812.4

p.R430H

c.1289G>A

4 papers

NM_020812.4

p.P423_R429insFs

c.1269_1285dup17

1 paper

NM_020812.4

p.R428_R429delFs

c.1282_1285del4

5 papers

NM_020812.4

p.R429fs

c.1285_1286fs

1 paper

NM_020812.4

p.S439R

c.1315A>C

1 paper

NM_020812.4

p.S439R

c.1317T>G

1 paper

NM_020812.4

p.S439R

c.1317T>A

1 paper

NM_020812.4

p.C444Y

c.1331G>A

1 paper

NM_020812.4

p.G448D

c.1343G>A