KIT c.1916C>G ;(p.S639C)

KIT c.1916C>G ;(p.S639C)

Variant ID: 4-55594213-C-G

NM_000222.2(KIT):c.1916C>G;(p.S639C)

This variant was identified in 4 publications

View GRCh38 version.

Variant-Specific Resource Links:

gnomAD v2.1.1

Mutalizer Name Checker

Google

UCSC Genome Browser

ClinVar

dbSNP

Publications:

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Bmc Medical Genomics

Sobahy, Turki M TM; Tashkandi, Ghassan G; Bahussain, Donya D; Al-Harbi, Raneem R

Publication Date: 2022-04-25

Variant appearance in text: KIT: 1916C>G

PubMed Link: 35468810

Variant Present in the following documents:

12920_2022_1235_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications

Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L

Publication Date: 2022-03-10

Variant appearance in text: KIT: 1916C>G; S639C

PubMed Link: 35273153

Variant Present in the following documents:

41467_2022_28840_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: KIT: 1916C>G; S639C

PubMed Link: 33397889

Variant Present in the following documents:

41467_2020_20162_MOESM6_ESM.xlsx, 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: S639C

PubMed Link: 31819097

Variant Present in the following documents:

41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page