Varaico: Literature-Extracted Genetic Variants

Gene:USHBP1
Variant:p.L286H

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.L286H
c.857T>A
Surrounding Variants
1 paper
NM_031941.4
p.H291Y
c.871C>T
1 paper
NM_031941.4
p.L281F
c.841C>T
1 paper
NM_031941.4
p.L278F
c.832C>T
1 paper
NM_031941.4
p.H272Q
c.816T>G
1 paper
NM_031941.4
p.H272Q
c.816T>A
1 paper
NM_031941.4
p.R301W
c.901C>T
1 paper
NM_031941.4
p.R270H
c.809G>A
1 paper
NM_031941.4
p.R268P
c.803G>C
1 paper
NM_031941.4
p.R268C
c.802C>T
2 papers
NM_031941.4
p.R267W
c.799C>T
1 paper
NM_031941.4
p.E305Q
c.913G>C
1 paper
NM_031941.4
p.Q256*
c.766C>T
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