Varaico: Literature-Extracted Genetic Variants

Gene:USHBP1

USHBP1

46 papers

Pfam Domains

USHBP1_PDZ-bdaa 299–363UCSCHarmonin-binding protein USHBP1, PDZ-binding domain

Gene Aliases

HGNC Name

USH1 protein network component harmonin binding protein 1

HGNC Alias Symbols

MCC2; AIEBP; FLJ38709

Papers
RefSeq ID
Protein change
DNA change
1–12 of 87 variants
3 papers
NM_031941.4
p.Q212R
c.635A>G
2 papers
NM_031941.4
p.R267W
c.799C>T
2 papers
NM_031941.4
p.E372K
c.1114G>A
2 papers
NM_031941.4
p.M439V
c.1315A>G
2 papers
NM_031941.4
p.V525M
c.1573G>A
2 papers
NM_031941.4
p.A536A
c.1608A>G
2 papers
NM_031941.4
p.R652Q
c.1955G>A
1 paper
NM_031941.4
p.P8T
c.22C>A
1 paper
NM_031941.4
p.R12Q
c.35G>A
1 paper
NM_031941.4
p.R14insFs
c.40_41insT
1 paper
NM_031941.4
p.A25A
c.75T>G
1 paper
NM_031941.4
p.S27R
c.79A>C
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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."