Varaico: Literature-Extracted Genetic Variants

HAUS3

52 papers

RefSeq Summary

This gene encodes a component of the HAUS augmin-like protein complex, which plays a key role in cytokinesis and mitosis. Disruption of the encoded protein causes mitotic defects resulting from fragme...

Pfam Domains

HAUS-augmin3aa 29–282UCSCHAUS augmin-like complex subunit 3

HAUS3_CCaa 441–515UCSCHAUS3, coiled-coil domain

HAUS3_Caa 527–596UCSCHAUS3, C-terminal domain

Gene Aliases

HGNC Name

HAUS augmin like complex subunit 3

HGNC Previous Symbol

C4orf15

Papers

RefSeq ID

Protein change

DNA change

1–12 of 44 variants

3 papers

NM_001303143.2

p.C271delFs

c.811delA

3 papers

NM_001303143.2

p.F572L

c.1714T>C

3 papers

NM_001303143.2

p.F572L

c.1716C>G

3 papers

NM_001303143.2

p.F572L

c.1716C>A

2 papers

NM_001303143.2

p.I14fs

c.40_41fs

2 papers

NM_001303143.2

p.E143K

c.427G>A

2 papers

NM_001303143.2

p.Y402C

c.1205A>G

1 paper

NM_001303143.2

p.L11F

c.33A>T

1 paper

NM_001303143.2

p.L11F

c.33A>C

1 paper

NM_001303143.2

p.G33D

c.98G>A

1 paper

NM_001303143.2

p.F43V

c.127T>G

1 paper

NM_001303143.2

p.N46T

c.137A>C