Varaico: Literature-Extracted Genetic Variants

Gene:USHBP1
Variant:p.R12Q

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.R12Q
c.35G>A
Surrounding Variants
1 paper
NM_031941.4
p.R14insFs
c.40_41insT
1 paper
NM_031941.4
p.P8T
c.22C>A
1 paper
NM_031941.4
p.A25A
c.75T>G
1 paper
NM_031941.4
p.S27R
c.79A>C
1 paper
NM_031941.4
p.S27R
c.81T>G
1 paper
NM_031941.4
p.S27R
c.81T>A
1 paper
NM_031941.4
p.P40_S41insT
c.118_122ins3
1 paper
NM_031941.4
p.K71T
c.212A>C
1 paper
NM_031941.4
p.E86*
c.256G>T
1 paper
NM_031941.4
p.E86insFs
c.258dupA
1 paper
NM_031941.4
p.P91S
c.271C>T
1 paper
NM_031941.4
p.E94Q
c.280G>C
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