Varaico: Literature-Extracted Genetic Variants

Gene:SAMD1
Variant:p.E336_D337insC

SAMD1

24 papers

Pfam Domains

SAMD1_WHaa 33–95UCSCSAM domain-containing protein 1, WH domain
SAMD1_SHDaa 239–318UCSCSAMD1 small helical domain
SAM_1aa 460–523UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

sterile alpha motif domain containing 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_138352.3
p.E336_D337insC
c.1006_1010ins3
Surrounding Variants
1 paper
NM_138352.3
p.D337_E338insC
c.1009_1013ins3
1 paper
NM_138352.3
p.E338D
c.1014A>T
1 paper
NM_138352.3
p.E338D
c.1014A>C
1 paper
NM_138352.3
p.E330_E331ins4
c.988_992ins12
1 paper
NM_138352.3
p.S353_D354del2
c.1057_1061del6
1 paper
NM_138352.3
p.P433P
c.1299A>G
1 paper
NM_138352.3
p.P439S
c.1315C>T
1 paper
NM_138352.3
p.S250N
c.749G>A
1 paper
NM_138352.3
p.P248P
c.744C>G
1 paper
NM_138352.3
p.L495R
c.1484T>G
3 papers
NM_138352.3
p.P112_R113insFs
c.336_337insC
1 paper
NM_138352.3
p.P111fs
c.331_332fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."