Schematic representation of RTEL1 variants with respect to functional protein domains. Variants in P1 and P2 with respect to the RTEL1 function protein domains. HD, N-terminal helicase domain; HHD1 and HHD2, harmonin homology domains 1 and 2; PIP, PCNA-interacting protein box; RING, C-terminal C4C4 type RING domain. Reference transcript NM_001283009.2, adapted from (1). Created using Biorender.com.