KIT c.1832T>C ;(p.L611S)

Variant ID: 4-55594046-T-C

NM_000222.2(KIT):c.1832T>C;(p.L611S)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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: L611S
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page


A structure-function perspective of Jak2 mutations and implications for alternate drug design strategies: the road not taken.

Current Medicinal Chemistry
Gnanasambandan, K K; Sayeski, P P PP
Publication Date: 2011

Variant appearance in text: KIT: L611S
PubMed Link: 21864276
Variant Present in the following documents:
  • Main text
View BVdb publication page