Varaico: Literature-Extracted Genetic Variants

Gene:SAMD11
Variant:p.Q600_V601Splc

SAMD11

44 papers

Pfam Domains

SANDaa 110–185UCSCSAND domain
SAM_2aa 704–767UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

sterile alpha motif domain containing 11

HGNC Alias Symbol

MGC45873

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152486.4
p.Q600_V601Splc
c.1801-2A>C
Surrounding Variants
3 papers
NM_001385641.1
p.R793*
c.2377C>T
NM_152486.4
p.R630*
c.1888C>T
1 paper
NM_152486.4
p.R630Q
c.1889G>A
1 paper
NM_001385641.1
p.Y811*
c.2433T>A
1 paper
NM_001385641.1
p.Y811*
c.2433T>G
1 paper
NM_001385641.1
p.L718fs
c.2152_2153fs
1 paper
NM_001385641.1
p.G717insFs
c.2150dupG
1 paper
NM_152486.4
p.G522Splc
c.1565-3C>T
9 papers
NM_001385641.1
p.F682_H683insT
c.2044_2048ins3
1 paper
NM_001385641.1
p.A657G
c.1970C>G
1 paper
NM_001385641.1
p.G656G
c.1968G>C
1 paper
NM_001385641.1
p.V642I
c.1924G>A
1 paper
NM_001385641.1
p.A641G
c.1922C>G
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