Varaico: Literature-Extracted Genetic Variants

DOCK4

117 papers

RefSeq Summary

This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic p...

Pfam Domains

SH3_2aa 10–64UCSCVariant SH3 domain

DOCK_Naa 69–392UCSCDOCK N-terminus

DOCK-C2aa 397–583UCSCC2 domain in Dock180 and Zizimin proteins

TPR_DOCKaa 593–1134UCSCDedicator of cytokinesis (DOCK) TPR region

DHR-2_Lobe_Aaa 1181–1308UCSCDHR-2, Lobe A

DHR-2_Lobe_Baa 1365–1448UCSCDHR-2, Lobe B

Gene Aliases

HGNC Name

dedicator of cytokinesis 4

HGNC Alias Symbols

FLJ34238; KIAA0716

Papers

RefSeq ID

Protein change

DNA change

1–12 of 149 variants

5 papers

NM_001363540.2

p.R853H

c.2558G>A

4 papers

NM_001363540.2

p.M326V

c.976A>G

3 papers

NM_001363540.2

p.P253L

c.758C>T

3 papers

NM_001363540.2

p.M326V

c.976A>G

3 papers

NM_001363540.2

p.H461R

c.1382A>G

3 papers

NM_001363540.2

p.I1067T

c.3200T>C

3 papers

NM_001363540.2

p.P1580P

c.4740C>A

2 papers

NM_001363540.2

p.V21I

c.61G>A

2 papers

NM_001363540.2

p.P194L

c.581C>T

2 papers

NM_001363540.2

p.R298*

c.892C>T

2 papers

NM_001363540.2

p.V770M

c.2308G>A

2 papers

NM_001363540.2

p.R924*

c.2770C>T