Varaico: Literature-Extracted Genetic Variants

Gene:USHBP1
Variant:p.E631Q

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.E631Q
c.1891G>C
Surrounding Variants
1 paper
NM_031941.4
p.E631K
c.1891G>A
1 paper
NM_031941.4
p.A630V
c.1889C>T
1 paper
NM_031941.4
p.R626Q
c.1877G>A
1 paper
NM_031941.4
p.C637R
c.1909T>C
1 paper
NM_031941.4
p.Q617H
c.1851G>T
1 paper
NM_031941.4
p.Q617H
c.1851G>C
1 paper
NM_031941.4
p.L602ins1
c.1804_1805insAAT
1 paper
NM_031941.4
p.D577_G578ins0
c.1730_1732dupATG
1 paper
NM_031941.4
p.V644delFs
c.1930delC
2 papers
NM_031941.4
p.R652Q
c.1955G>A
1 paper
NM_031941.4
p.M668T
c.2003T>C
1 paper
NM_031941.4
p.E674K
c.2020G>A
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