KIT c.2047A>G ;(p.R683G)

Variant ID: 4-55595557-A-G

NM_000222.2(KIT):c.2047A>G;(p.R683G)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: KIT: R683G
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
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: R683G
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: R683G
PubMed Link: 21864276
Variant Present in the following documents:
  • Main text
View BVdb publication page