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.R1543W

c.4627C>T

Surrounding Variants

1 paper

NM_020812.4

p.M1540delFs

c.4620delC

1 paper

NM_020812.4

p.D1544delFs

c.4631_4632delGT

2 papers

NM_020812.4

p.R1526*

c.4576C>T

3 papers

NM_020812.4

p.T1516M

c.4547C>T

1 paper

NM_020812.4

p.V1502_K1503insFs

c.4505_4508dup4

1 paper

NM_020812.4

p.R1501delFs

c.4501_4502delCG

1 paper

NM_020812.4

p.Q1550_V1551Splc

c.4651-8G>A

1 paper

NM_020812.4

p.N1557K

c.4671C>G

1 paper

NM_020812.4

p.N1557K

c.4671C>A

1 paper

NM_020812.4

p.L1578F

c.4732C>T

1 paper

NM_020812.4

p.I1579V

c.4735A>G

1 paper

NM_020812.4

p.D1580insFs

c.4739dupA