Varaico: Literature-Extracted Genetic Variants

Gene:USHBP1
Variant:p.S407Splc

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.S407Splc
c.1220+1G>T
Surrounding Variants
1 paper
NM_031941.4
p.P406T
c.1216C>A
1 paper
NM_031941.4
p.E382G
c.1145A>G
2 papers
NM_031941.4
p.E372K
c.1114G>A
1 paper
NM_031941.4
p.R363Q
c.1088G>A
1 paper
NM_031941.4
p.L362insFs
c.1085_1086insT
1 paper
NM_031941.4
p.V358F
c.1072G>T
1 paper
NM_031941.4
p.S349Splc
c.1046+2T>C
1 paper
NM_031941.4
p.E338K
c.1012G>A
1 paper
NM_031941.4
p.S329N
c.986G>A
1 paper
NM_031941.4
p.C325*
c.975T>A
1 paper
NM_031941.4
p.L318L
c.954A>C
1 paper
NM_031941.4
p.E305Q
c.913G>C
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