Varaico: Literature-Extracted Genetic Variants

Gene:USHBP1
Variant:p.H138Q

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
1 paper
NM_031941.4
p.H138Q
c.414C>G
Surrounding Variants
1 paper
NM_031941.4
p.H138Q
c.414C>A
1 paper
NM_031941.4
p.P141R
c.422C>G
1 paper
NM_031941.4
p.S153T
c.458G>C
1 paper
NM_031941.4
p.E154E
c.462A>G
1 paper
NM_031941.4
p.Q120E
c.358C>G
1 paper
NM_031941.4
p.R171*
c.511C>T
1 paper
NM_031941.4
p.R175L
c.524G>T
1 paper
NM_031941.4
p.E94Q
c.280G>C
1 paper
NM_031941.4
p.P91S
c.271C>T
1 paper
NM_031941.4
p.E86insFs
c.258dupA
1 paper
NM_031941.4
p.R190P
c.569G>C
1 paper
NM_031941.4
p.E86*
c.256G>T
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