Varaico: Literature-Extracted Genetic Variants

Gene:HAUS5
Variant:p.C632S

HAUS5

33 papers

RefSeq Summary

HAUS5 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

HAUS5aa 7–619UCSCHAUS augmin-like complex subunit 5

Gene Aliases

HGNC Name

HAUS augmin like complex subunit 5

HGNC Previous Symbol

KIAA0841

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015302.2
p.C632S
c.1895G>C
Surrounding Variants
2 papers
NM_015302.2
p.C632S
c.1894T>A
1 paper
NM_015302.2
p.A627S
c.1879G>T
1 paper
NM_015302.2
p.Q616Q
c.1848G>A
1 paper
NM_015302.2
p.L582V
c.1744C>G
1 paper
NM_015302.2
p.E565G
c.1694A>G
1 paper
NM_015302.2
p.D535_L536insA
c.1603_1607ins3
1 paper
NM_015302.2
p.S530R
c.1590C>A
1 paper
NM_015302.2
p.S530R
c.1590C>G
1 paper
NM_015302.2
p.S530R
c.1588A>C
1 paper
NM_015302.2
p.A486S
c.1456G>T
1 paper
NM_015302.2
p.T461M
c.1382C>T
1 paper
NM_015302.2
p.R427*
c.1279C>T
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