Varaico: Literature-Extracted Genetic Variants

Gene:SBNO2
Variant:p.R458Splc

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.R458Splc
c.1374-43C>T
Surrounding Variants
1 paper
NM_014963.3
p.A462T
c.1384G>A
1 paper
NM_014963.3
p.E492del1
c.1474_1476delCTC
1 paper
NM_014963.3
p.A498insFs
c.1493_1494ins14
1 paper
NM_001100122.2
p.E399K
c.1195G>A
1 paper
NM_014963.3
p.H453H
c.1359C>T
1 paper
NM_014963.3
p.N447D
c.1339A>G
1 paper
NM_014963.3
p.E441K
c.1321G>A
1 paper
NM_014963.3
p.M430V
c.1288A>G
1 paper
NM_014963.3
p.G423Splc
c.1268-2A>T
1 paper
NM_014963.3
p.P412delFs
c.1234delG
1 paper
NM_014963.3
p.G396G
c.1188C>T
1 paper
NM_014963.3
p.A511G
c.1532C>G
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