ALDH1A1 c.529A>T ;(p.I177F)

Variant ID: 9-75540504-T-A

NM_000689.4(ALDH1A1):c.529A>T;(p.I177F)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Biobanking as a Tool for Genomic Research: From Allele Frequencies to Cross-Ancestry Association Studies.

Journal Of Personalized Medicine
Lazareva, Tatyana E TE; Barbitoff, Yury A YA; Changalidis, Anton I AI; Tkachenko, Alexander A AA; Maksiutenko, Evgeniia M EM; Nasykhova, Yulia A YA; Glotov, Andrey S AS
Publication Date: 2022-12-09

Variant appearance in text: rs8187929
PubMed Link: 36556260
Variant Present in the following documents:
  • Main text
  • jpm-12-02040.pdf
View BVdb publication page



Associations between six dietary habits and risk of hepatocellular carcinoma: A Mendelian randomization study.

Hepatology Communications
Deng, Yunyang Y; Huang, Junjie J; Wong, Martin C S MCS
Publication Date: 2022-08

Variant appearance in text: rs8187929
PubMed Link: 35670026
Variant Present in the following documents:
  • Main text
  • HEP4-6-2147.pdf
View BVdb publication page



Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology
Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J
Publication Date: 2021-09

Variant appearance in text: ALDH1A1: 529A>T; I177F; rs8187929
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



Gene variations in autism spectrum disorder are associated with alteration of gut microbiota, metabolites and cytokines.

Gut Microbes
Liu, Zhi Z; Mao, Xuhua X; Dan, Zhou Z; Pei, Yang Y; Xu, Rui R; Guo, Mengchen M; Liu, Kangjian K; Zhang, Faming F; Chen, Junyu J; Su, Chuan C; Zhuang, Yaoyao Y; Tang, Junming J; Xia, Yankai Y; Qin, Lianhong L; Hu, Zhibin Z; Liu, Xingyin X
Publication Date: 2021

Variant appearance in text: ALDH1A1: I177F; rs8187929
PubMed Link: 33412999
Variant Present in the following documents:
  • Main text
  • KGMI_13_1854967.pdf
View BVdb publication page



ALDH3B2 Polymorphism Is Associated with Colorectal Cancer Susceptibility.

Journal Of Oncology
Gao, Zhi-Gang ZG; Yang, Yong Y; Han, Xiao-Feng XF; Wang, Yun-Lei YL; Wang, Zhen-Jun ZJ
Publication Date: 2020

Variant appearance in text: rs8187929
PubMed Link: 32377192
Variant Present in the following documents:
  • Main text
  • JO2020-5179635.pdf
View BVdb publication page



Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Molecular Brain
Song, Jinjing J; Yang, Xiujuan X; Zhou, Ying Y; Chen, Lei L; Zhang, Xu X; Liu, Zhuxi Z; Niu, Weibo W; Zhan, Nengpeng N; Fan, Xuelian X; Khan, Abdul Aziz AA; Kuang, Yifang Y; Song, Lulu L; He, Guang G; Li, Weidong W
Publication Date: 2019-11-07

Variant appearance in text: ALDH1A1: I177F; rs8187929
PubMed Link: 31699123
Variant Present in the following documents:
  • 13041_2019_507_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Nature Communications
Takata, Atsushi A; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Mizuguchi, Takeshi T; Mitsuhashi, Satomi S; Takahashi, Yukitoshi Y; Okamoto, Nobuhiko N; Osaka, Hitoshi H; Nakamura, Kazuyuki K; Tohyama, Jun J; Haginoya, Kazuhiro K; Takeshita, Saoko S; Kuki, Ichiro I; Okanishi, Tohru T; Goto, Tomohide T; Sasaki, Masayuki M; Sakai, Yasunari Y; Miyake, Noriko N; Miyatake, Satoko S; Tsuchida, Naomi N; Iwama, Kazuhiro K; Minase, Gaku G; Sekiguchi, Futoshi F; Fujita, Atsushi A; Imagawa, Eri E; Koshimizu, Eriko E; Uchiyama, Yuri Y; Hamanaka, Kohei K; Ohba, Chihiro C; Itai, Toshiyuki T; Aoi, Hiromi H; Saida, Ken K; Sakaguchi, Tomohiro T; Den, Kouhei K; Takahashi, Rina R; Ikeda, Hiroko H; Yamaguchi, Tokito T; Tsukamoto, Kazuki K; Yoshitomi, Shinsaku S; Oboshi, Taikan T; Imai, Katsumi K; Kimizu, Tomokazu T; Kobayashi, Yu Y; Kubota, Masaya M; Kashii, Hirofumi H; Baba, Shimpei S; Iai, Mizue M; Kira, Ryutaro R; Hara, Munetsugu M; Ohta, Masayasu M; Miyata, Yohane Y; Miyata, Rie R; Takanashi, Jun-Ichi JI; Matsui, Jun J; Yokochi, Kenji K; Shimono, Masayuki M; Amamoto, Masano M; Takayama, Rumiko R; Hirabayashi, Shinichi S; Aiba, Kaori K; Matsumoto, Hiroshi H; Nabatame, Shin S; Shiihara, Takashi T; Kato, Mitsuhiro M; Matsumoto, Naomichi N
Publication Date: 2019-06-07

Variant appearance in text: ALDH1A1: 529A>T; Ile177Phe
PubMed Link: 31175295
Variant Present in the following documents:
  • 41467_2019_10482_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Genetic variants in ALDH1B1 and alcohol dependence risk in a British and Irish population: A bioinformatic and genetic study.

Plos One
Way, Michael J MJ; Ali, M Adam MA; McQuillin, Andrew A; Morgan, Marsha Y MY
Publication Date: 2017

Variant appearance in text: rs8187929
PubMed Link: 28594837
Variant Present in the following documents:
  • Main text
  • pone.0177009.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs8187929
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: ALDH1A1: I177F
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets.

Nature Genetics
Schulze, Kornelius K; Imbeaud, Sandrine S; Letouzé, Eric E; Alexandrov, Ludmil B LB; Calderaro, Julien J; Rebouissou, Sandra S; Couchy, Gabrielle G; Meiller, Clément C; Shinde, Jayendra J; Soysouvanh, Frederic F; Calatayud, Anna-Line AL; Pinyol, Roser R; Pelletier, Laura L; Balabaud, Charles C; Laurent, Alexis A; Blanc, Jean-Frederic JF; Mazzaferro, Vincenzo V; Calvo, Fabien F; Villanueva, Augusto A; Nault, Jean-Charles JC; Bioulac-Sage, Paulette P; Stratton, Michael R MR; Llovet, Josep M JM; Zucman-Rossi, Jessica J
Publication Date: 2015-05

Variant appearance in text: ALDH1A1: I177F
PubMed Link: 25822088
Variant Present in the following documents:
  • NIHMS62359-supplement-Table3.xlsx, sheet 1
View BVdb publication page



The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N
Publication Date: 2015

Variant appearance in text: rs8187929
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
View BVdb publication page



The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports
Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK
Publication Date: 2014

Variant appearance in text: rs8187929
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page