Varaico: Literature-Extracted Genetic Variants

Gene:SAMD11
Variant:p.R290Splc

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.R290Splc
c.869+1G>A
Surrounding Variants
1 paper
NM_001385641.1
p.S451L
c.1352C>T
1 paper
NM_001385641.1
p.Q429*
c.1285C>T
1 paper
NM_001385641.1
p.L461L
c.1383G>A
1 paper
NM_001385641.1
p.S485L
c.1454C>T
2 papers
NM_001385641.1
p.A486V
c.1457C>T
1 paper
NM_152486.4
p.P335insFs
c.1005dupC
1 paper
NM_001385641.1
p.P522delFs
c.1564delC
1 paper
NM_001385641.1
p.K529E
c.1585A>G
1 paper
NM_001385641.1
p.Q537delFs
c.1610_1611delAG
1 paper
NM_001385641.1
p.P547P
c.1641C>T
1 paper
NM_001385641.1
p.A572P
c.1714G>C
1 paper
NM_001385641.1
p.G577R
c.1729G>A
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