Varaico: Literature-Extracted Genetic Variants

Gene:SPOUT1
Variant:p.E318D

SPOUT1

35 papers

Pfam Domains

Methyltrn_RNA_3aa 74–364UCSCPutative RNA methyltransferase

Gene Aliases

HGNC Name

SPOUT domain containing methyltransferase 1

HGNC Previous Symbol

C9orf114

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016390.4
p.E318D
c.954A>T
Surrounding Variants
1 paper
NM_016390.4
p.E318D
c.954A>C
2 papers
NM_016390.4
p.L314F
c.940C>T
1 paper
NM_016390.4
p.G312V
c.935G>T
2 papers
NM_016390.4
p.Y339C
c.1016A>G
1 paper
NM_016390.4
p.Y339*
c.1017C>G
1 paper
NM_016390.4
p.Y339*
c.1017C>A
1 paper
NM_016390.4
p.V340I
c.1018G>A
2 papers
NM_016390.4
p.R349C
c.1045C>T
1 paper
NM_016390.4
p.R349H
c.1046G>A
2 papers
NM_016390.4
p.R352C
c.1054C>T
2 papers
NM_016390.4
p.R352H
c.1055G>A
4 papers
NM_016390.4
p.T353M
c.1058C>T
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