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

4 papers

NM_004947.5

p.K639_F640Splc

c.1918-3T>C

Surrounding Variants

1 paper

NM_004947.5

p.Y659C

c.1976A>G

1 paper

NM_004947.5

p.L662*

c.1985T>A

1 paper

NM_004947.5

p.F664fs

c.1990_1991fs

1 paper

NM_004947.5

p.I670I

c.2010C>A

1 paper

NM_004947.5

p.R675*

c.2023C>T

1 paper

NM_004947.5

p.E636V

c.1907A>T

2 papers

NM_004947.5

p.R621Q

c.1862G>A

1 paper

NM_004947.5

p.A617D

c.1850C>A

1 paper

NM_004947.5

p.D608V

c.1823A>T

1 paper

NM_004947.5

p.K589*

c.1765A>T

1 paper

NM_004947.5

p.K589fs

c.1765_1766fs

1 paper

NM_004947.5

p.K589delFs

c.1766_1767delAA