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

Selected Variant

1 paper

NM_004947.5

p.P412S

c.1234C>T

Surrounding Variants

1 paper

NM_004947.5

p.L403F

c.1209G>C

1 paper

NM_004947.5

p.L403F

c.1209G>T

1 paper

NM_004947.5

p.I398V

c.1192A>G

1 paper

NM_004947.5

p.P396S

c.1186C>T

3 papers

NM_004947.5

p.R392Q

c.1175G>A

1 paper

NM_004947.5

p.R392W

c.1174C>T

1 paper

NM_004947.5

p.Q390*

c.1168C>T

1 paper

NM_004947.5

p.M388fs

c.1162_1163fs

1 paper

NM_004947.5

p.L384F

c.1150C>T

1 paper

NM_004947.5

p.S364S

c.1092C>G

1 paper

NM_004947.5

p.R362Q

c.1085G>A

2 papers

NM_004947.5

p.T346Splc

c.1038-2A>G