Varaico: Literature-Extracted Genetic Variants

DOCK10

138 papers

RefSeq Summary

This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family are guanosine nucleotide exchange factors for Rho GTPases and defined by the presence of conserved DOC...

Pfam Domains

DOCK_C-D_Naa 45–155UCSCDedicator of cytokinesis C/D, N terminal

PHaa 182–290UCSCPH domain

DOCK-C2aa 668–859UCSCC2 domain in Dock180 and Zizimin proteins

TPR_DOCK9aa 887–1103UCSCDOCK9-like, TPR repeats

DHR-2_Lobe_Aaa 1696–1780UCSCDHR-2, Lobe A

DHR-2_Lobe_Aaa 1760–1865UCSCDHR-2, Lobe A

Gene Aliases

HGNC Name

dedicator of cytokinesis 10

HGNC Alias Symbols

ZIZ3; KIAA0694

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_014689.3

p.I1252M

c.3756C>G

Surrounding Variants

1 paper

NM_014689.3

p.K1253insFs

c.3757_3758insTA

1 paper

NM_014689.3

p.Q1247insFs

c.3739_3740insTA

1 paper

NM_014689.3

p.V1266insFs

c.3796_3797insTA

1 paper

NM_014689.3

p.G1235R

c.3703G>C

1 paper

NM_014689.3

p.G1235R

c.3703G>A

1 paper

NM_014689.3

p.E1301Q

c.3901G>C

1 paper

NM_014689.3

p.P1316P

c.3948C>A

1 paper

NM_014689.3

p.S1322L

c.3965C>T

1 paper

NM_014689.3

p.R1325*

c.3973C>T

1 paper

NM_014689.3

p.S1349L

c.4046C>T

1 paper

NM_014689.3

p.W1357*

c.4070G>A

1 paper

NM_014689.3

p.R1359K

c.4076G>A