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.F475F

c.1425C>T

Surrounding Variants

1 paper

NM_020812.4

p.D478_M479insFs

c.1434_1435insC

1 paper

NM_020812.4

p.D469D

c.1407C>T

1 paper

NM_020812.4

p.R466Q

c.1397G>A

6 papers

NM_020812.4

p.R466*

c.1396C>T

1 paper

NM_020812.4

p.E465K

c.1393G>A

1 paper

NM_020812.4

p.E463D

c.1389G>T

1 paper

NM_020812.4

p.E463D

c.1389G>C

1 paper

NM_020812.4

p.R488Q

c.1463G>A

1 paper

NM_020812.4

p.A494Splc

c.1480+4C>T

3 papers

NM_020812.4

p.L454_T455delFs

c.1362_1365del4

7 papers

NM_020812.4

p.T455fs

c.1363_1364fs

1 paper

NM_020812.4

p.L454fs

c.1360_1361fs