PXYLP1 c.1255G>A ;(p.V419I)

Variant ID: 3-141011859-G-A

NM_001037172.1(PXYLP1):c.1255G>A;(p.V419I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Clonal Evolutionary Analysis during HER2 Blockade in HER2-Positive Inflammatory Breast Cancer: A Phase II Open-Label Clinical Trial of Afatinib +/- Vinorelbine.

Plos Medicine
Goh, Gerald G; Schmid, Ramona R; Guiver, Kelly K; Arpornwirat, Wichit W; Chitapanarux, Imjai I; Ganju, Vinod V; Im, Seock-Ah SA; Kim, Sung-Bae SB; Dechaphunkul, Arunee A; Maneechavakajorn, Jedzada J; Spector, Neil N; Yau, Thomas T; Afrit, Mehdi M; Ahmed, Slim Ben SB; Johnston, Stephen R SR; Gibson, Neil N; Uttenreuther-Fischer, Martina M; Herrero, Javier J; Swanton, Charles C
Publication Date: 2016-12

Variant appearance in text: PXYLP1: V419I; rs34512847
PubMed Link: 27923043
Variant Present in the following documents:
  • pmed.1002136.s018.xlsx, sheet 1
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: ACPL2: V419I
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
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: rs34512847
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s009.xlsx, sheet 1
View BVdb publication page