Varaico: Literature-Extracted Genetic Variants

Gene:POM121L12
Variant:p.R208Q

POM121L12

89 papers

Pfam Domains

POM121aa 195–246UCSCPOM121 family

Gene Aliases

HGNC Name

POM121 transmembrane nucleoporin like 12

HGNC Alias Symbol

DKFZp564N2472

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_182595.4
p.R208Q
c.623G>A
Surrounding Variants
1 paper
NM_182595.4
p.Q211L
c.632A>T
1 paper
NM_182595.4
p.V200I
c.598G>A
1 paper
NM_182595.4
p.E199K
c.595G>A
1 paper
NM_182595.4
p.K218_S221delFs
c.654_663del10
1 paper
NM_182595.4
p.S221G
c.661A>G
1 paper
NM_182595.4
p.G194G
c.582G>C
1 paper
NM_182595.4
p.K222N
c.666A>C
1 paper
NM_182595.4
p.K222N
c.666A>T
1 paper
NM_182595.4
p.D193N
c.577G>A
1 paper
NM_182595.4
p.S228F
c.683C>T
1 paper
NM_182595.4
p.G188E
c.563G>A
1 paper
NM_182595.4
p.S183I
c.548G>T
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