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.C1953Y

c.5858G>A

Surrounding Variants

1 paper

NM_004947.5

p.S1957*

c.5870C>A

1 paper

NM_004947.5

p.S1957*

c.5870C>G

1 paper

NM_004947.5

p.G1960R

c.5878G>A

1 paper

NM_004947.5

p.G1960R

c.5878G>C

1 paper

NM_004947.5

p.V1962I

c.5884G>A

2 papers

NM_004947.5

p.V1944I

c.5830G>A

1 paper

NM_004947.5

p.Q1965*

c.5893C>T

1 paper

NM_004947.5

p.P1931L

c.5792C>T

1 paper

NM_004947.5

p.K1976fs

c.5926_5927fs

1 paper

NM_004947.5

p.E1926K

c.5776G>A

1 paper

NM_004947.5

p.A1921fs

c.5761_5762fs

1 paper

NM_004947.5

p.R1910C

c.5728C>T