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.C1062S

c.3184T>A

Surrounding Variants

1 paper

NM_020812.4

p.C1062S

c.3185G>C

4 papers

NM_020812.4

p.L1064fs

c.3190_3191fs

1 paper

NM_020812.4

p.L1064P

c.3191T>C

5 papers

NM_020812.4

p.L1064delFs

c.3190_3191delAG

3 papers

NM_020812.4

p.V1055M

c.3163G>A

4 papers

NM_020812.4

p.E1052K

c.3154G>A

1 paper

NM_020812.4

p.S1073fs

c.3217_3218fs

1 paper

NM_020812.4

p.S1073insFs

c.3219dupT

1 paper

NM_020812.4

p.V1074fs

c.3220_3221fs

1 paper

NM_020812.4

p.S1073delFs

c.3218_3219delAG

1 paper

NM_020812.4

p.R1046H

c.3137G>A

1 paper

NM_020812.4

p.R1046C

c.3136C>T