Varaico: Literature-Extracted Genetic Variants

Gene:USHBP1
Variant:p.A536A

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.A536A
c.1608A>G
Surrounding Variants
1 paper
NM_031941.4
p.R532Q
c.1595G>A
1 paper
NM_031941.4
p.S545R
c.1635C>G
2 papers
NM_031941.4
p.V525M
c.1573G>A
1 paper
NM_031941.4
p.E561D
c.1683G>T
1 paper
NM_031941.4
p.E561D
c.1683G>C
1 paper
NM_031941.4
p.Q564_G565Splc
c.1692+3G>A
1 paper
NM_031941.4
p.R505H
c.1514G>A
1 paper
NM_031941.4
p.L474I
c.1420C>A
1 paper
NM_031941.4
p.P472P
c.1416A>G
1 paper
NM_031941.4
p.P472L
c.1415C>T
1 paper
NM_031941.4
p.P453L
c.1358C>T
1 paper
NM_031941.4
p.P445A
c.1333C>G
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