Varaico: Literature-Extracted Genetic Variants

Gene:C1orf146
Variant:p.G54Splc

C1orf146

11 papers

Pfam Domains

SCREaa 9–170UCSCProtein SPO16 homolog

Gene Aliases

HGNC Name

chromosome 1 open reading frame 146

HGNC Alias Symbols

SPO16; SCRE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001012425.2
p.G54Splc
c.160+8A>G
Surrounding Variants
1 paper
NM_001012425.2
p.S51_L52delFs
c.151_154del4
1 paper
NM_001012425.2
p.I48F
c.142A>T
1 paper
NM_001012425.2
p.A29S
c.85G>T
1 paper
NM_001012425.2
p.E25Q
c.73G>C
1 paper
NM_001012425.2
p.S23fs
c.67_68fs
1 paper
NM_001012425.2
p.V55I
c.163G>A
1 paper
NM_001012425.2
p.E64K
c.190G>A
2 papers
NM_001012425.2
p.C65Y
c.194G>A
1 paper
NM_001012425.2
p.E78Q
c.232G>C
1 paper
NM_001012425.2
p.H84R
c.251A>G
1 paper
NM_001012425.2
p.L89delFs
c.266delT
1 paper
NM_001012425.2
p.L89fs
c.265_266fs
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