Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.S1145*

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.S1145*
c.3434C>A
Surrounding Variants
1 paper
NM_017654.4
p.S1145*
c.3434C>G
1 paper
NM_017654.4
p.V1146F
c.3436G>T
1 paper
NM_017654.4
p.N1141delFs
c.3423delG
2 papers
NM_017654.4
p.N1141fs
c.3421_3422fs
1 paper
NM_017654.4
p.N1138S
c.3413A>G
1 paper
NM_017654.4
p.L1152_L1153del2
c.3454_3458del6
18 papers
NM_017654.4
p.E1136Q
c.3406G>C
2 papers
NM_017654.4
p.I1135V
c.3403A>G
1 paper
NM_017654.4
p.A1156V
c.3467C>T
1 paper
NM_017654.4
p.T1122_G1124del3
c.3364_3371del9
1 paper
NM_017654.4
p.Q1167E
c.3499C>G
1 paper
NM_017654.4
p.T1122S
c.3364A>T
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