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KIT c.2000T>G ;(p.L667R)
Variant ID: 4-55595510-T-G
NM_000222.2(
KIT
):c.2000T>G;(p.L667R)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: L667R
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
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: L667R
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Piebaldism with multiple café-au-lait-like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation.
Jaad Case Reports
Nagaputra, Jerry C JC; Koh, Mark J A MJA; Brett, Maggie M; Lim, Eileen C P ECP; Lim, Hwee-Woon HW; Tan, Ene-Choo EC
Publication Date: 2018-05
Variant appearance in text: KIT: 2000T>G
PubMed Link:
29693058
Variant Present in the following documents:
Main text
View BVdb publication page