Varaico: Literature-Extracted Genetic Variants

Gene:SBNO2
Variant:p.H993Y

SBNO2

86 papers

Pfam Domains

AAA_34aa 215–505UCSCP-loop containing NTP hydrolase pore-1
Helicase_C_4aa 732–1010UCSCC-terminal domain on Strawberry notch homologue
SBNOaa 1048–1160UCSCSBNO alpha/beta domain

Gene Aliases

HGNC Name

strawberry notch homolog 2

HGNC Previous Symbol

KIAA0963

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014963.3
p.H993Y
c.2977C>T
Surrounding Variants
1 paper
NM_014963.3
p.K999E
c.2995A>G
1 paper
NM_014963.3
p.M938_K939delFs
c.2813_2816del4
1 paper
NM_014963.3
p.M938fs
c.2812_2813fs
1 paper
NM_014963.3
p.V931L
c.2791G>C
1 paper
NM_014963.3
p.V923L
c.2767G>T
1 paper
NM_014963.3
p.V923L
c.2767G>C
1 paper
NM_014963.3
p.L1011R
c.3032T>G
1 paper
NM_014963.3
p.H881_G882delFs
c.2642_2645del4
1 paper
NM_014963.3
p.R1074C
c.3220C>T
1 paper
NM_014963.3
p.P1078L
c.3233C>T
1 paper
NM_014963.3
p.Q1085H
c.3255G>T
1 paper
NM_014963.3
p.Q1085H
c.3255G>C
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