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

2 papers

NM_004947.5

p.H117R

c.350A>G

Surrounding Variants

1 paper

NM_004947.5

p.V118L

c.352G>C

1 paper

NM_004947.5

p.V118L

c.352G>T

1 paper

NM_004947.5

p.R116H

c.347G>A

1 paper

NM_004947.5

p.R116C

c.346C>T

1 paper

NM_004947.5

p.R116fs

c.346_347fs

1 paper

NM_004947.5

p.E121K

c.361G>A

1 paper

NM_004947.5

p.L125fs

c.373_374fs

1 paper

NM_004947.5

p.R126*

c.376C>T

2 papers

NM_004947.5

p.Q128E

c.382C>G

4 papers

NM_004947.5

p.Q128*

c.382C>T

1 paper

NM_004947.5

p.L129Q

c.386T>A

1 paper

NM_004947.5

p.R140W

c.418C>T