KIT D820A


Variant type

missense mutation

Location

Chromosome 17

Exon

8

Protein change

p.D820A

cDNA change

-

Genomic coordinate

Chromosome 17

FATHMM prediction

-

Variant category

I

Variant description

The D820A mutation occurs within the KIT activation loop (exon 17) and results in an amino acid exchange at codon 820 from aspartic acid (D) to alanine (A) (PMID: 22301675).

Variant frequence

This section displays the distribution of mutated samples and tissue types (top 5).

CancerDISSECT gene frequenceDISSECT variant frequenceCOSMIC gene frequenceCOSMIC variant frequence
Colorectal cancer0.1654---
Skin cancer0.0342---
Lung cancer0.0226---
Bladder cancer0.0201---
Breast cancer0.005---

Accoiciated drug

CancerDurgDrug typeDrug groupsEvidence level
No data available.