GENETIC ENCYCLOPEDIA
ABOUT US    

   

gene: KHDC3L

id154288
symbolKHDC3L
organismHomo sapiens
full nameKH domain containing 3 like, subcortical maternal complex member
summaryThe protein encoded by this gene belongs to the KHDC1 family, members of which contain an atypical KH domain that may not bind RNA like canonical KH domains. This gene is specifically expressed in the oocytes, and recent studies suggest that it may function as a regulator of genomic imprinting in the oocyte. Mutations in this gene are associated with recurrent biparental complete hydatidiform mole. [provided by RefSeq, Dec 2011]
variant-disease

NM_001017361.3(KHDC3L):c.334C>T (p.Gln112Ter) AND Hydatidiform mole, recurrent, 2

NM_001017361.3(KHDC3L):c.322_325del (p.Asp108fs) AND Hydatidiform mole, recurrent, 2

NM_001017361.3(KHDC3L):c.299_302del (p.Ile100fs) AND Hydatidiform mole, recurrent, 2

NM_001017361.3(KHDC3L):c.3G>T (p.Met1Ile) AND Hydatidiform mole, recurrent, 2

NM_001017361.3(KHDC3L):c.1A>G (p.Met1Val) AND Hydatidiform mole, recurrent, 2

... 8 more


Partner site create screenshot of website on site-shot.com.