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

Selected Variant

3 papers

NM_001303143.2

p.F572L

c.1714T>C

Surrounding Variants

1 paper

NM_001303143.2

p.E571D

c.1713A>T

1 paper

NM_001303143.2

p.E571D

c.1713A>C

3 papers

NM_001303143.2

p.F572L

c.1716C>G

3 papers

NM_001303143.2

p.F572L

c.1716C>A

1 paper

NM_001303143.2

p.A561E

c.1682C>A

1 paper

NM_001303143.2

p.I586T

c.1757T>C

1 paper

NM_001303143.2

p.V553M

c.1657G>A

1 paper

NM_001303143.2

p.Q526_E527Splc

c.1579-6T>C

1 paper

NM_001303143.2

p.R503W

c.1507C>T

1 paper

NM_001303143.2

p.F498L

c.1494C>G

1 paper

NM_001303143.2

p.F498L

c.1494C>A

1 paper

NM_001303143.2

p.F498L

c.1492T>C