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.A1442T

c.4324G>A

Surrounding Variants

1 paper

NM_020812.4

p.Q1434_H1435insC

c.4300_4304ins3

1 paper

NM_020812.4

p.Q1428*

c.4282C>T

1 paper

NM_020812.4

p.K1418R

c.4253A>G

1 paper

NM_020812.4

p.V1416G

c.4247T>G

2 papers

NM_020812.4

p.V1412I

c.4234G>A

1 paper

NM_020812.4

p.A1408S

c.4222G>T

1 paper

NM_020812.4

p.T1402M

c.4205C>T

1 paper

NM_020812.4

p.V1400fs

c.4198_4199fs

1 paper

NM_020812.4

p.V1400insFs

c.4198_4199ins4

1 paper

NM_020812.4

p.V1400M

c.4198G>A

1 paper

NM_020812.4

p.I1399insFs

c.4196dupT

1 paper

NM_020812.4

p.E1397*

c.4189G>T