Varaico: Literature-Extracted Genetic Variants

DOCK3

265 papers

RefSeq Summary

This gene is specifically expressed in the central nervous system (CNS). It encodes a member of the DOCK (dedicator of cytokinesis) family of guanine nucleotide exchange factors (GEFs). This protein, ...

Pfam Domains

SH3_2aa 10–64UCSCVariant SH3 domain

DOCK_Naa 69–412UCSCDOCK N-terminus

DOCK-C2aa 417–608UCSCC2 domain in Dock180 and Zizimin proteins

TPR_DOCKaa 618–1163UCSCDedicator of cytokinesis (DOCK) TPR region

DHR-2_Lobe_Aaa 1219–1346UCSCDHR-2, Lobe A

DHR-2_Lobe_Baa 1403–1486UCSCDHR-2, Lobe B

Gene Aliases

HGNC Name

dedicator of cytokinesis 3

HGNC Alias Symbols

KIAA0299; MOCA; PBP

Papers

RefSeq ID

Protein change

DNA change

1–12 of 292 variants

8 papers

NM_004947.5

p.T1850delFs

c.5549delC

8 papers

NM_004947.5

p.P1852fs

c.5554_5555fs

5 papers

NM_004947.5

p.T1850fs

c.5548_5549fs

5 papers

NM_004947.5

p.P1852fs

c.5554_5555fs

4 papers

NM_004947.5

p.Q128*

c.382C>T

4 papers

NM_004947.5

p.K639_F640Splc

c.1918-3T>C

3 papers

NM_004947.5

p.K66T

c.197A>C

3 papers

NM_004947.5

p.V334I

c.1000G>A

3 papers

NM_004947.5

p.R392Q

c.1175G>A

2 papers

NM_004947.5

p.H117R

c.350A>G

2 papers

NM_004947.5

p.Q128E

c.382C>G

2 papers

NM_004947.5

p.R149C

c.445C>T