Varaico: Literature-Extracted Genetic Variants

Gene:PATL2
Variant:p.S243C

PATL2

82 papers

Pfam Domains

PAT1aa 252–491UCSCTopoisomerase II-associated protein PAT1

Gene Aliases

HGNC Name

PAT1 homolog 2

HGNC Alias Symbol

Pat1a

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001387263.1
p.S243C
c.728C>G
Surrounding Variants
1 paper
NM_001387263.1
p.R240Q
c.719G>A
1 paper
NM_001387263.1
p.N239K
c.717C>G
4 papers
NM_001387263.1
p.N239fs
c.715_716fs
6 papers
NM_001387263.1
p.N239delFs
c.716delT
1 paper
NM_001387263.1
p.V247fs
c.739_740fs
2 papers
NM_001387263.1
p.N239fs
c.715_716fs
1 paper
NM_001387263.1
p.T248M
c.743C>T
4 papers
NM_001387263.1
p.R237*
c.709C>T
1 paper
NM_001387263.1
p.Y250_K253del4
c.748_758del12
1 paper
NM_001387263.1
p.E255K
c.763G>A
1 paper
NM_001387263.1
p.K227fs
c.679_680fs
8 papers
NM_001387263.1
p.V260M
c.778G>A
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