FBN1 c.1997A>G ;(p.K666R)

Variant ID: 15-48796100-T-C

NM_000138.4(FBN1):c.1997A>G;(p.K666R)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

Sequence specificity analysis of the SETD2 protein lysine methyltransferase and discovery of a SETD2 super-substrate.

Communications Biology
Schuhmacher, Maren Kirstin MK; Beldar, Serap S; Khella, Mina S MS; Bröhm, Alexander A; Ludwig, Jan J; Tempel, Wolfram W; Weirich, Sara S; Min, Jinrong J; Jeltsch, Albert A
Publication Date: 2020-09-16

Variant appearance in text: FBN1: K666R
PubMed Link: 32939018
Variant Present in the following documents:
  • Main text
  • 42003_2020_Article_1223.pdf
View BVdb publication page