CYP4A11 c.388G>A ;(p.G130S)

Variant ID: 1-47402458-C-T

NM_000778.3(CYP4A11):c.388G>A;(p.G130S)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Genetic trajectory and clonal evolution of multiple primary lung cancer with lymph node metastasis.

Cancer Gene Therapy
Tian, He H; Wang, Yalong Y; Yang, Zhenlin Z; Chen, Ping P; Xu, Jiachen J; Tian, Yanhua Y; Fan, Tao T; Xiao, Chu C; Bai, Guangyu G; Li, Lin L; Zheng, Bo B; Li, Chunxiang C; He, Jie J
Publication Date: 2023-01-19

Variant appearance in text: CYP4A11: G130S
PubMed Link: 36653483
Variant Present in the following documents:
  • 41417_2022_572_MOESM2_ESM.xlsx, sheet 1
  • 41417_2022_572_MOESM9_ESM.xlsx, sheet 2
  • 41417_2022_572_MOESM9_ESM.xlsx, sheet 7
View BVdb publication page



A Functional Variant Rs492554 Associated With Congenital Heart Defects Modulates SESN2 Expression Through POU2F1.

Frontiers In Cell And Developmental Biology
Yang, Wenke W; Li, Yi Y; Bai, Jun J; You, Tao T; Yi, Kang K; Xie, Dingxiong D; Zhang, Xiaowei X; Xie, Xiaodong X
Publication Date: 2021

Variant appearance in text: CYP4A11: G130S
PubMed Link: 34249922
Variant Present in the following documents:
  • Table_1.xls, sheet 2
View BVdb publication page



Reliability of Whole-Exome Sequencing for Assessing Intratumor Genetic Heterogeneity.

Cell Reports
Shi, Weiwei W; Ng, Charlotte K Y CKY; Lim, Raymond S RS; Jiang, Tingting T; Kumar, Sushant S; Li, Xiaotong X; Wali, Vikram B VB; Piscuoglio, Salvatore S; Gerstein, Mark B MB; Chagpar, Anees B AB; Weigelt, Britta B; Pusztai, Lajos L; Reis-Filho, Jorge S JS; Hatzis, Christos C
Publication Date: 2018-11-06

Variant appearance in text: CYP4A11: G130S
PubMed Link: 30404001
Variant Present in the following documents:
  • NIHMS1512150-supplement-5.xlsx, sheet 1
View BVdb publication page



An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

The Pharmacogenomics Journal
Zhou, Yitian Y; Mkrtchian, Souren S; Kumondai, Masaki M; Hiratsuka, Masahiro M; Lauschke, Volker M VM
Publication Date: 2019-04

Variant appearance in text: CYP4A11: G130S; rs62621075
PubMed Link: 30206299
Variant Present in the following documents:
  • 41397_2018_44_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications
North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ
Publication Date: 2018-05-14

Variant appearance in text: CYP4A11: G130S; rs62621075
PubMed Link: 29760388
Variant Present in the following documents:
  • 41467_2018_4008_MOESM3_ESM.xlsx, sheet 32
View BVdb publication page



Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine
Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA
Publication Date: 2017-05-24

Variant appearance in text: CYP4A11: G130S
PubMed Link: 28539123
Variant Present in the following documents:
  • 13073_2017_434_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: CYP4A11: G130S
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 3
View BVdb publication page



Expression of CYP2A6, CYP2D6 and CYP4A11 Polymorphisms in COS7 Mammalian Cell Line.

Toxicological Research
Lee, Hye Ja HJ; Park, Mi Kyung MK; Park, Young Ran YR; Kim, Donghak D; Yun, Chul-Ho CH; Chun, Young-Jin YJ; Shin, Hee Jung HJ; Na, Han Sung HS; Chung, Myeon Woo MW; Lee, Chang Hoon CH
Publication Date: 2011-03

Variant appearance in text: CYP4A11: G130S
PubMed Link: 24278547
Variant Present in the following documents:
  • Main text
  • toxicr-27-25.pdf
View BVdb publication page