Varaico: Literature-Extracted Genetic Variants

Gene:SAMD11
Variant:p.P228fs

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
3 papers
NM_001385641.1
p.P228fs
c.682_683fs
Surrounding Variants
5 papers
NM_001385641.1
p.P228fs
c.682_683fs
9 papers
NM_001385641.1
p.P228insFs
c.682_683insT
1 paper
NM_001385641.1
p.P228_D236del0
c.683_706del24
1 paper
NM_001385641.1
p.P228_D236del9
c.682_707del27
1 paper
NM_001385641.1
p.E225D
c.675G>C
1 paper
NM_152486.4
p.K45E
c.133A>G
1 paper
NM_001385641.1
p.K224_T227del4
c.670_680del12
1 paper
NM_152486.4
p.A36T
c.106G>A
1 paper
NM_001385641.1
p.A215_S231del0
c.645_692del48
1 paper
NM_152486.4
p.E74D
c.222G>C
1 paper
NM_152486.4
p.E74D
c.222G>T
1 paper
NM_001385641.1
p.P256P
c.768G>T
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