HP c.242A>C ;(p.D81A)

Variant ID: 16-72091342-A-C

NM_005143.3(HP):c.242A>C;(p.D81A)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


The meiotic LINC complex component KASH5 is an activating adaptor for cytoplasmic dynein.

The Journal Of Cell Biology
Garner, Kirsten E L KEL; Salter, Anna A; Lau, Clinton K CK; Gurusaran, Manickam M; Villemant, Cécile M CM; Granger, Elizabeth P EP; McNee, Gavin G; Woodman, Philip G PG; Davies, Owen R OR; Burke, Brian E BE; Allan, Victoria J VJ
Publication Date: 2023-05-01

Variant appearance in text: HP: D81A
PubMed Link: 36946995
Variant Present in the following documents:
  • Main text
  • JCB_202204042.pdf
View BVdb publication page



Dissecting the link between the enzymatic activity and the SaPI inducing capacity of the phage 80α dUTPase.

Scientific Reports
Alite, Christian C; Humphrey, Suzanne S; Donderis, Jordi J; Maiques, Elisa E; Ciges-Tomas, J Rafael JR; Penadés, José R JR; Marina, Alberto A
Publication Date: 2017-09-11

Variant appearance in text: HP: D81A
PubMed Link: 28894239
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_11234.pdf
View BVdb publication page



Another look at the mechanism involving trimeric dUTPases in Staphylococcus aureus pathogenicity island induction involves novel players in the party.

Nucleic Acids Research
Maiques, Elisa E; Quiles-Puchalt, Nuria N; Donderis, Jorge J; Ciges-Tomas, J Rafael JR; Alite, Christian C; Bowring, Janine Z JZ; Humphrey, Suzanne S; Penadés, José R JR; Marina, Alberto A
Publication Date: 2016-06-20

Variant appearance in text: HP: D81A
PubMed Link: 27112567
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanistic and bioinformatic investigation of a conserved active site helix in α-isopropylmalate synthase from Mycobacterium tuberculosis, a member of the DRE-TIM metallolyase superfamily.

Biochemistry
Casey, Ashley K AK; Hicks, Michael A MA; Johnson, Jordyn L JL; Babbitt, Patricia C PC; Frantom, Patrick A PA
Publication Date: 2014-05-13

Variant appearance in text: HP: D81A
PubMed Link: 24720347
Variant Present in the following documents:
  • Main text
  • bi500246z.pdf
View BVdb publication page



Mapping the Deltex-binding surface on the notch ankyrin domain using analytical ultracentrifugation.

Journal Of Molecular Biology
Allgood, Andrea Gayle AG; Barrick, Doug D
Publication Date: 2011-11-25

Variant appearance in text: HP: D81A
PubMed Link: 22001695
Variant Present in the following documents:
  • Main text
View BVdb publication page



CNK and HYP form a discrete dimer by their SAM domains to mediate RAF kinase signaling.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Rajakulendran, Thanashan T; Sahmi, Malha M; Kurinov, Igor I; Tyers, Mike M; Therrien, Marc M; Sicheri, Frank F
Publication Date: 2008-02-26

Variant appearance in text: HP: D81A
PubMed Link: 18287031
Variant Present in the following documents:
  • Main text
View BVdb publication page