Varaico: Literature-Extracted Genetic Variants

Gene:POM121C
Variant:p.S782S

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.S782S
c.2346C>G
Surrounding Variants
1 paper
NM_001099415.3
p.T780T
c.2340G>A
1 paper
NM_001099415.3
p.F801F
c.2403C>T
1 paper
NM_001099415.3
p.T761M
c.2282C>T
1 paper
NM_001099415.3
p.V759M
c.2275G>A
1 paper
NM_001099415.3
p.V755L
c.2263G>T
1 paper
NM_001099415.3
p.V755L
c.2263G>C
1 paper
NM_001099415.3
p.T751M
c.2252C>T
1 paper
NM_001099415.3
p.A737A
c.2211C>G
1 paper
NM_001099415.3
p.S735fs
c.2203_2204fs
1 paper
NM_001099415.3
p.T836delFs
c.2508delC
1 paper
NM_001099415.3
p.P724P
c.2172C>T
1 paper
NM_001099415.3
p.P724L
c.2171C>T
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