Varaico: Literature-Extracted Genetic Variants

Gene:SAMD11
Variant:p.E343D

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_001385641.1
p.E343D
c.1029G>C
Surrounding Variants
1 paper
NM_001385641.1
p.A346T
c.1036G>A
1 paper
NM_152486.4
p.R168*
c.502C>T
1 paper
NM_001385641.1
p.A354V
c.1061C>T
1 paper
NM_001385641.1
p.Y371S
c.1112A>C
1 paper
NM_001385641.1
p.R373W
c.1117C>T
1 paper
NM_152486.4
p.R210C
c.628C>T
2 papers
NM_152486.4
p.P228insFs
c.682_683insT
1 paper
NM_152486.4
p.P228fs
c.682_683fs
1 paper
NM_152486.4
p.P233T
c.697C>A
1 paper
NM_001385641.1
p.Q429*
c.1285C>T
1 paper
NM_001385641.1
p.S451L
c.1352C>T
1 paper
NM_152486.4
p.R290Splc
c.869+1G>A
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