Varaico: Literature-Extracted Genetic Variants

Gene:POM121C
Variant:p.S294L

POM121C

43 papers

Gene Aliases

HGNC Name

POM121 transmembrane nucleoporin C

HGNC Previous Name

POM121 membrane glycoprotein C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001099415.3
p.S294L
c.881C>T
Surrounding Variants
1 paper
NM_001099415.3
p.T317P
c.949A>C
1 paper
NM_001099415.3
p.P433fs
c.1297_1298fs
1 paper
NM_001099415.3
p.P433delFs
c.1299delG
1 paper
NM_001099415.3
p.A453T
c.1357G>A
1 paper
NM_001099415.3
p.S460P
c.1378T>C
1 paper
NM_001099415.3
p.A489A
c.1467G>A
1 paper
NM_001099415.3
p.S211F
c.632C>T
1 paper
NM_001099415.3
p.E192D
c.576A>T
1 paper
NM_001099415.3
p.E192D
c.576A>C
1 paper
NM_001099415.3
p.T537N
c.1610C>A
1 paper
NM_001099415.3
p.V553L
c.1657G>T
1 paper
NM_001099415.3
p.V553L
c.1657G>C
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