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.N328D

c.982A>G

Surrounding Variants

3 papers

NM_001363540.2

p.M326V

c.976A>G

1 paper

NM_001363540.2

p.I340S

c.1019T>G

1 paper

NM_001363540.2

p.R347H

c.1040G>A

4 papers

NM_001363540.2

p.M326V

c.976A>G

1 paper

NM_001363540.2

p.D310G

c.929A>G

1 paper

NM_001363540.2

p.A309T

c.925G>A

1 paper

NM_001363540.2

p.C303*

c.909T>A

2 papers

NM_001363540.2

p.R298*

c.892C>T

1 paper

NM_001363540.2

p.C293C

c.879T>C

1 paper

NM_001363540.2

p.R283Q

c.848G>A

1 paper

NM_001363540.2

p.I281I

c.843C>T

1 paper

NM_001363540.2

p.V276M

c.826G>A