Varaico: Literature-Extracted Genetic Variants

DOCK2

237 papers

RefSeq Summary

The protein encoded by this gene belongs to the CDM protein family. It is specifically expressed in hematopoietic cells and is predominantly expressed in peripheral blood leukocytes. The protein is in...

Pfam Domains

SH3_2aa 12–66UCSCVariant SH3 domain

DOCK_Naa 71–414UCSCDOCK N-terminus

DOCK-C2aa 419–616UCSCC2 domain in Dock180 and Zizimin proteins

TPR_DOCKaa 626–1156UCSCDedicator of cytokinesis (DOCK) TPR region

DHR-2_Lobe_Aaa 1203–1334UCSCDHR-2, Lobe A

DHR-2_Lobe_Baa 1391–1474UCSCDHR-2, Lobe B

Gene Aliases

HGNC Name

dedicator of cytokinesis 2

HGNC Alias Symbol

KIAA0209

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004946.3

p.M328I

c.984G>C

Surrounding Variants

1 paper

NM_004946.3

p.M328I

c.984G>A

1 paper

NM_004946.3

p.M328I

c.984G>T

1 paper

NM_004946.3

p.D341E

c.1023T>A

1 paper

NM_004946.3

p.D341E

c.1023T>G

1 paper

NM_004946.3

p.T354I

c.1061C>T

1 paper

NM_004946.3

p.E356G

c.1067A>G

1 paper

NM_004946.3

p.L363insFs

c.1087dupC

1 paper

NM_004946.3

p.G365V

c.1094G>T

1 paper

NM_004946.3

p.G378R

c.1132G>C

1 paper

NM_004946.3

p.T382T

c.1146C>A

1 paper

NM_004946.3

p.R394C

c.1180C>T

1 paper

NM_004946.3

p.K395E

c.1183A>G