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PKHD1
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PKHD1
Description
PKHD1 ciliary IPT domain containing fibrocystin/polyductin
Aliases
ARPKD, FCYT, FPC, PKD4, TIGM1
Gene Identifiers
mRNA Identifiers
RefSeq (mRNA)
NM_138694.4; NM_170724.3; XM_011514680.3; XM_011514682.3; XM_011514683.3; XM_011514684.3; XM_011514685.1; XM_011514686.2; XM_011514687.1; XM_011514688.2; XM_011514690.3; XM_011514691.3; XM_017010944.2; XM_017010945.2; XM_017010946.2; XM_017010947.2; XM_017010948.2; XM_017010949.2; XM_017010950.1; XM_017010951.1; XM_017010952.1
Protein Identifiers
RefSeq (protein)
NP_619639.3; NP_733842.2; XP_011512982.1; XP_011512984.1; XP_011512985.1; XP_011512986.1; XP_011512987.1; XP_011512988.1; XP_011512989.1; XP_011512990.1; XP_011512992.1; XP_011512993.1; XP_016866433.1; XP_016866434.1; XP_016866435.1; XP_016866436.1; XP_016866437.1; XP_016866438.1; XP_016866439.1; XP_016866440.1; XP_016866441.1
Uniprot ID
Ensembl protein ID
Protein Architecture
SMART
Disease Mapping
Druggability
- Candidate cancer driver, healthy driver
- Damaged in 193/7921 TCGA samples
- Damaged in 74/1291 cell lines
- Fewer loss of function mutations
- Equal damaging SNVs/indels
- Fewer structural variants