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.A320V

c.959C>T

Surrounding Variants

1 paper

NM_004947.5

p.V321I

c.961G>A

1 paper

NM_004947.5

p.C319Y

c.956G>A

1 paper

NM_004947.5

p.R315P

c.944G>C

2 papers

NM_004947.5

p.R315*

c.943C>T

1 paper

NM_004947.5

p.T332R

c.995C>G

3 papers

NM_004947.5

p.V334I

c.1000G>A

1 paper

NM_004947.5

p.E337*

c.1009G>T

1 paper

NM_004947.5

p.N302I

c.905A>T

1 paper

NM_004947.5

p.D339N

c.1015G>A

1 paper

NM_004947.5

p.G297Splc

c.889+67A>G

2 papers

NM_004947.5

p.V290I

c.868G>A

1 paper

NM_004947.5

p.L287F

c.861G>C