KIT c.1879C>A ;(p.P627T)

Variant ID: 4-55594093-C-A

NM_000222.2(KIT):c.1879C>A;(p.P627T)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Publication Date: 2022-08

Variant appearance in text: KIT: P627T
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Analysis of Genetic Alterations in Ocular Adnexal Mucosa-Associated Lymphoid Tissue Lymphoma With Whole-Exome Sequencing.

Frontiers In Oncology
Zhao, Andi A; Wu, Fangtian F; Wang, Yue Y; Li, Jianyong J; Xu, Wei W; Liu, Hu H
Publication Date: 2022

Variant appearance in text: KIT: 1879C>A; Pro627Thr; rs1032761406
PubMed Link: 35359413
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics
Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M
Publication Date: 2020-02-04

Variant appearance in text: KIT: 1879C>A; P627T
PubMed Link: 32019565
Variant Present in the following documents:
  • 12920_2020_668_MOESM7_ESM.xls, sheet 1
  • 12920_2020_668_MOESM8_ESM.xls, sheet 1
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: KIT: P627T
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page