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.E1439D

c.4317G>T

Surrounding Variants

1 paper

NM_001363540.2

p.E1439D

c.4317G>C

1 paper

NM_001363540.2

p.A1393T

c.4177G>A

1 paper

NM_001363540.2

p.Y1388Splc

c.4163-44G>T

1 paper

NM_001363540.2

p.F1382Y

c.4145T>A

1 paper

NM_001363540.2

p.M1371V

c.4111A>G

1 paper

NM_001363540.2

p.R1360_L1362del3

c.4078_4085del9

1 paper

NM_001363540.2

p.R1360_L1362del0

c.4080_4085del6

1 paper

NM_014705.4

p.R1338Q

c.4013G>A

1 paper

NM_001363540.2

p.E1343K

c.4027G>A

1 paper

NM_001363540.2

p.E1448D

c.4344G>T

1 paper

NM_001363540.2

p.E1448D

c.4344G>C

1 paper

NM_014705.4

p.D1304delFs

c.3910delC