HR c.200A>T ;(p.Q67L)

Variant ID: 8-21986484-T-A

NM_005144.4(HR):c.200A>T;(p.Q67L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Insufficiency of ciliary cholesterol in hereditary Zellweger syndrome.

The Embo Journal
Miyamoto, Tatsuo T; Hosoba, Kosuke K; Itabashi, Takeshi T; Iwane, Atsuko H AH; Akutsu, Silvia Natsuko SN; Ochiai, Hiroshi H; Saito, Yumiko Y; Yamamoto, Takashi T; Matsuura, Shinya S
Publication Date: 2020-06-17

Variant appearance in text: HR: Q67L
PubMed Link: 32368833
Variant Present in the following documents:
  • EMBJ-39-e103499.pdf
View BVdb publication page



Exploring Novel Functions of the Small GTPase Ypt1p under Heat-Shock by Characterizing a Temperature-Sensitive Mutant Yeast Strain, ypt1-G80D.

International Journal Of Molecular Sciences
Kang, Chang Ho CH; Park, Joung Hun JH; Lee, Eun Seon ES; Paeng, Seol Ki SK; Chae, Ho Byoung HB; Chi, Yong Hun YH; Lee, Sang Yeol SY
Publication Date: 2019-01-01

Variant appearance in text: HR: Q67L
PubMed Link: 30609659
Variant Present in the following documents:
  • Main text
  • ijms-20-00132.pdf
View BVdb publication page



Arf4 is required for Mammalian development but dispensable for ciliary assembly.

Plos Genetics
Follit, John A JA; San Agustin, Jovenal T JT; Jonassen, Julie A JA; Huang, Tingting T; Rivera-Perez, Jaime A JA; Tremblay, Kimberly D KD; Pazour, Gregory J GJ
Publication Date: 2014-02

Variant appearance in text: HR: Q67L
PubMed Link: 24586199
Variant Present in the following documents:
  • Main text
  • pgen.1004170.pdf
View BVdb publication page



Endosomal trafficking of the receptor tyrosine kinase MuSK proceeds via clathrin-dependent pathways, Arf6 and actin.

The Febs Journal
Luiskandl, Susan S; Woller, Barbara B; Schlauf, Marlies M; Schmid, Johannes A JA; Herbst, Ruth R
Publication Date: 2013-07

Variant appearance in text: HR: Q67L
PubMed Link: 23621612
Variant Present in the following documents:
  • febs0280-3281.pdf
View BVdb publication page