Varaico: Literature-Extracted Genetic Variants

Gene:USHBP1
Variant:p.R652Q

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
Selected Variant
2 papers
NM_031941.4
p.R652Q
c.1955G>A
Surrounding Variants
1 paper
NM_031941.4
p.V644delFs
c.1930delC
1 paper
NM_031941.4
p.M668T
c.2003T>C
1 paper
NM_031941.4
p.E674K
c.2020G>A
1 paper
NM_031941.4
p.E675V
c.2024A>T
1 paper
NM_031941.4
p.V676A
c.2027T>C
1 paper
NM_031941.4
p.A677V
c.2030C>T
1 paper
NM_031941.4
p.E680K
c.2038G>A
1 paper
NM_031941.4
p.P691delFs
c.2072delG
1 paper
NM_031941.4
p.P694P
c.2082G>A
1 paper
NM_031941.4
p.L698P
c.2093T>C
1 paper
NM_031941.4
p.C637R
c.1909T>C
1 paper
NM_031941.4
p.E631Q
c.1891G>C
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