ADAM17 c.2243C>T ;(p.A748V)

Variant ID: 2-9630538-G-A

NM_003183.4(ADAM17):c.2243C>T;(p.A748V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Rare mutations of ADAM17 from TOFs induce hypertrophy in human embryonic stem cell-derived cardiomyocytes via HB-EGF signaling.

Clinical Science (London, England : 1979)
Xie, Yifang Y; Ma, Anyun A; Wang, Boshi B; Peng, Rui R; Jing, Yingchun Y; Wang, Deqian D; Finnell, Richard H RH; Qiao, Bin B; Wang, Yongming Y; Wang, Hongyan H; Zheng, Yufang Y
Publication Date: 2019-01-31

Variant appearance in text: ADAM17: 2243C>T; A748V
PubMed Link: 30610007
Variant Present in the following documents:
  • Main text
  • cs-133-cs20180842.pdf
  • cs-133-cs20180842_supp1.pdf
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: ADAM17: A748V; rs79932015
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03

Variant appearance in text: rs79932015
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s009.xlsx, sheet 1
View BVdb publication page