SI c.1588T>C ;(p.F530L)

Variant ID: 3-164767588-A-G

NM_001041.3(SI):c.1588T>C;(p.F530L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: SI: 1588T>C; F530L
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Genetic studies of human-chimpanzee divergence using stem cell fusions.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Song, Janet H T JHT; Grant, Rachel L RL; Behrens, Veronica C VC; Kučka, Marek M; Roberts Kingman, Garrett A GA; Soltys, Volker V; Chan, Yingguang Frank YF; Kingsley, David M DM
Publication Date: 2021-12-21

Variant appearance in text: SI: F530L
PubMed Link: 34921118
Variant Present in the following documents:
  • pnas.2117557118.sapp.pdf
View BVdb publication page



A Salmonella Typhi RNA thermosensor regulates virulence factors and innate immune evasion in response to host temperature.

Plos Pathogens
Brewer, Susan M SM; Twittenhoff, Christian C; Kortmann, Jens J; Brubaker, Sky W SW; Honeycutt, Jared J; Massis, Liliana Moura LM; Pham, Trung H M THM; Narberhaus, Franz F; Monack, Denise M DM
Publication Date: 2021-03

Variant appearance in text: SI: F530L
PubMed Link: 33651854
Variant Present in the following documents:
  • ppat.1009345.pdf
View BVdb publication page



Cell-free Directed Evolution of a Protease in Microdroplets at Ultrahigh Throughput.

Acs Synthetic Biology
Holstein, Josephin M JM; Gylstorff, Christian C; Hollfelder, Florian F
Publication Date: 2021-02-19

Variant appearance in text: SI: F530L
PubMed Link: 33502841
Variant Present in the following documents:
  • sb0c00538_si_001.pdf
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: SI: F530L
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page