Varaico: Literature-Extracted Genetic Variants

Gene:POLH
Variant:p.R253C
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POLH

NM_006502.3:p.R253C

Associated Papers

Four germline POLH variants, including two found in skin tumors, impair DNA polymerase η function and cellular tolerance to UV radiation and cisplatin.

Hong JK et al.

Chemico-biological Interactions, 2025

Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.

Balbás-Martínez C et al.

Nature Genetics, 2013

24121791 (PubMed )
Supplement: NIHMS525200-supplement-2.xls › Relevant_mut_discovery_screen
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