CD4 c.364_366delinsATC ;(p.V122I)

Variant ID: 12-6923457-GTG-ATC

NM_000616.4(CD4):c.364_366delinsATC;(p.V122I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The Structural Understanding of Transthyretin Misfolding and the Inspired Drug Approaches for the Treatment of Heart Failure Associated With Transthyretin Amyloidosis.

Frontiers In Pharmacology
He, Shan S; He, Xinyue X; Liu, Lei L; Zhang, Wenbo W; Yu, Lanlan L; Deng, Zhun Z; Feiyi, Zhang Z; Mo, Shanshan S; Fan, Yue Y; Zhao, Xinyue X; Wang, Lun L; Wang, Chenxuan C; Zhang, Shuyang S
Publication Date: 2021

Variant appearance in text: CD4: Val122Ile
PubMed Link: 33679409
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inflammatory state exists in familial amyloid polyneuropathy that may be triggered by mutated transthyretin.

Scientific Reports
Suenaga, Genki G; Ikeda, Tokunori T; Masuda, Teruaki T; Motokawa, Hiroaki H; Yamashita, Taro T; Takamatsu, Kotaro K; Misumi, Yohei Y; Ueda, Mitsuharu M; Matsui, Hirotaka H; Senju, Satoru S; Ando, Yukio Y
Publication Date: 2017-05-08

Variant appearance in text: CD4: V122I
PubMed Link: 28484271
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_1775.pdf
View BVdb publication page



Whole-genome resequencing analyses of five pig breeds, including Korean wild and native, and three European origin breeds.

Dna Research : An International Journal For Rapid Publication Of Reports On Genes And Genomes
Choi, Jung-Woo JW; Chung, Won-Hyong WH; Lee, Kyung-Tai KT; Cho, Eun-Seok ES; Lee, Si-Woo SW; Choi, Bong-Hwan BH; Lee, Sang-Heon SH; Lim, Wonjun W; Lim, Dajeong D; Lee, Yun-Gyeong YG; Hong, Joon-Ki JK; Kim, Doo-Wan DW; Jeon, Hyeon-Jeong HJ; Kim, Jiwoong J; Kim, Namshin N; Kim, Tae-Hun TH
Publication Date: 2015-08

Variant appearance in text: CD4: V122I
PubMed Link: 26117497
Variant Present in the following documents:
  • supp_dsv011_dsv011supp_table2.xlsx, sheet 2
View BVdb publication page