Varaico: Literature-Extracted Genetic Variants

Gene:HAUS1

HAUS1

26 papers

RefSeq Summary

HAUS1 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to in...

Pfam Domains

HAUS1aa 10–246UCSCHAUS augmin-like complex subunit 1

Gene Aliases

HGNC Name

HAUS augmin like complex subunit 1

HGNC Alias Symbols

HEI-C; HsT1461; FLJ40084

Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
3 papers
NM_138443.4
p.R179H
c.536G>A
2 papers
NM_138443.4
p.E222_K223Splc
c.666+1G>A
1 paper
NM_138443.4
p.E6del1
c.16_17delGAG
1 paper
NM_138443.4
p.K16_I18del3
c.46_53del9
1 paper
NM_138443.4
p.I18delFs
c.52delA
1 paper
NM_138443.4
p.I18fs
c.52_53fs
1 paper
NM_138443.4
p.R47Q
c.140G>A
1 paper
NM_138443.4
p.S63C
c.187A>T
1 paper
NM_138443.4
p.A69Splc
c.205+2768G>A
1 paper
NM_138443.4
p.A69Splc
c.206-773G>A
1 paper
NM_138443.4
p.A69Splc
c.206-1G>A
1 paper
NM_138443.4
p.Q73H
c.219A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."