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.K1059T

c.3176A>C

Surrounding Variants

1 paper

NM_001363540.2

p.G1056E

c.3167G>A

1 paper

NM_001363540.2

p.P1064S

c.3190C>T

3 papers

NM_001363540.2

p.I1067T

c.3200T>C

1 paper

NM_001363540.2

p.H1090Y

c.3268C>T

1 paper

NM_001363540.2

p.M1093I

c.3279G>T

1 paper

NM_001363540.2

p.M1093I

c.3279G>C

1 paper

NM_001363540.2

p.M1093I

c.3279G>A

1 paper

NM_001363540.2

p.D1094N

c.3280G>A

1 paper

NM_001363540.2

p.S1100C

c.3298A>T

1 paper

NM_001363540.2

p.G1101C

c.3301G>T

1 paper

NM_001363540.2

p.L1145L

c.3433C>T

1 paper

NM_001363540.2

p.E1151D

c.3453A>T