Varaico: Literature-Extracted Genetic Variants

Gene:SBNO1
Variant:p.N1139fs

SBNO1

93 papers

Pfam Domains

AAA_34aa 255–560UCSCP-loop containing NTP hydrolase pore-1
Helicase_C_4aa 872–1148UCSCC-terminal domain on Strawberry notch homologue
SBNOaa 1186–1300UCSCSBNO alpha/beta domain

Gene Aliases

HGNC Name

strawberry notch homolog 1

HGNC Alias Symbols

MOP3; FLJ10701; FLJ10833; Sno

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001167856.3
p.N1139fs
c.3415_3416fs
Surrounding Variants
1 paper
NM_001167856.3
p.V1132A
c.3395T>C
1 paper
NM_001167856.3
p.V1132D
c.3395T>A
1 paper
NM_001167856.3
p.Q1123*
c.3367C>T
1 paper
NM_001167856.3
p.E1114delFs
c.3340delC
1 paper
NM_001167856.3
p.M1113I
c.3339G>T
1 paper
NM_001167856.3
p.G1112C
c.3334G>T
1 paper
NM_001167856.3
p.A1196A
c.3588T>C
1 paper
NM_001167856.3
p.E1197Q
c.3589G>C
1 paper
NM_001167856.3
p.R1090C
c.3268C>T
1 paper
NM_001167856.3
p.D1074Splc
c.3220+5C>G
1 paper
NM_001167856.3
p.M1060V
c.3178A>G
1 paper
NM_001167856.3
p.P1059S
c.3175C>T
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