Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.R1038_R1040del3

SAMD9

342 papers

RefSeq Summary

This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this ...

Pfam Domains

SAM_1aa 12–75UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

sterile alpha motif domain containing 9

HGNC Alias Symbols

KIAA2004; FLJ20073

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017654.4
p.R1038_R1040del3
c.3112_3119del9
Surrounding Variants
1 paper
NM_017654.4
p.R1040_D1041insFs
c.3120_3121ins20
1 paper
NM_017654.4
p.D1041fs
c.3121_3122fs
4 papers
NM_017654.4
p.R1040C
c.3118C>T
1 paper
NM_017654.4
p.L1036F
c.3106C>T
2 papers
NM_017654.4
p.G1048R
c.3142G>C
2 papers
NM_017654.4
p.G1048R
c.3142G>A
1 paper
NM_017654.4
p.S1052F
c.3155C>T
1 paper
NM_017654.4
p.L1028fs
c.3082_3083fs
1 paper
NM_017654.4
p.K1026E
c.3076A>G
1 paper
NM_017654.4
p.K1024E
c.3070A>G
1 paper
NM_017654.4
p.H1059D
c.3175C>G
1 paper
NM_017654.4
p.H1059R
c.3176A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."