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

Selected Variant

1 paper

NM_001363540.2

p.F763L

c.2289T>G

Surrounding Variants

1 paper

NM_001363540.2

p.F763L

c.2289T>A

1 paper

NM_001363540.2

p.F763L

c.2287T>C

1 paper

NM_001363540.2

p.A761S

c.2281G>T

2 papers

NM_001363540.2

p.V770M

c.2308G>A

1 paper

NM_001363540.2

p.L794Q

c.2381T>A

1 paper

NM_001363540.2

p.T796I

c.2387C>T

1 paper

NM_001363540.2

p.L820I

c.2458C>A

1 paper

NM_001363540.2

p.N823fs

c.2467_2468fs

1 paper

NM_001363540.2

p.N823_P824delFs

c.2467_2470del4

1 paper

NM_001363540.2

p.S747L

c.2240C>T

1 paper

NM_001363540.2

p.R732H

c.2195G>A

1 paper

NM_001363540.2

p.G724S

c.2170G>A