Varaico: Literature-Extracted Genetic Variants

Gene:SAMD11
Variant:p.S75_L76delFs

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.S75_L76delFs
c.224_227del4
Surrounding Variants
1 paper
NM_001385641.1
p.L76_A79del0
c.228_236del9
1 paper
NM_001385641.1
p.A72_H77delFs
c.215_231del17
1 paper
NM_001385641.1
p.R68H
c.203G>A
1 paper
NM_001385641.1
p.R68G
c.202C>G
1 paper
NM_001385641.1
p.R68C
c.202C>T
1 paper
NM_001385641.1
p.E93G
c.278A>G
2 papers
NM_001385641.1
p.A56T
c.166G>A
1 paper
NM_001385641.1
p.P32L
c.95C>T
1 paper
NM_001385641.1
p.L126L
c.378G>A
1 paper
NM_001385641.1
p.T20A
c.58A>G
1 paper
NM_001385641.1
p.K174K
c.522A>G
1 paper
NM_001385641.1
p.P190T
c.568C>A
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