NF1 c.686A>C ;(p.D229A)

Variant ID: 17-29508759-A-C

NM_001042492.2(NF1):c.686A>C;(p.D229A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Stabilization of Interdomain Interactions in G protein α i Subunits Determines Gα i Subtype Signaling Specificity.

Biorxiv : The Preprint Server For Biology
Lefevre, Tyler J TJ; Wei, Wenyuan W; Mukhaleva, Elizaveta E; Venkata, Sai Pranathi Meda SPM; Chandan, Naincy R NR; Abraham, Saji S; Li, Yong Y; Dessauer, Carmen W CW; Vaidehi, Nagarajan N; Smrcka, Alan V AV
Publication Date: 2023-04-06

Variant appearance in text: NF1: D229A
PubMed Link: 37066214
Variant Present in the following documents:
  • Main text
  • nihpp-2023.03.10.532072v2.pdf
View BVdb publication page



Distinct p53 phosphorylation patterns in chronic lymphocytic leukemia patients are reflected in the activation of circumjacent pathways upon DNA damage.

Molecular Oncology
Mancikova, Veronika V; Pesova, Michaela M; Pavlova, Sarka S; Helma, Robert R; Zavacka, Kristyna K; Hejret, Vaclav V; Taus, Petr P; Hynst, Jakub J; Plevova, Karla K; Malcikova, Jitka J; Pospisilova, Sarka S
Publication Date: 2022-11-05

Variant appearance in text: NF1: 686A>C; Asp229Ala
PubMed Link: 36334078
Variant Present in the following documents:
  • MOL2-17-82-s003.pdf
View BVdb publication page



An extended consensus motif enhances the specificity of substrate modification by SUMO.

The Embo Journal
Yang, Shen-Hsi SH; Galanis, Alex A; Witty, James J; Sharrocks, Andrew D AD
Publication Date: 2006-11-01

Variant appearance in text: NF1: D229A
PubMed Link: 17036045
Variant Present in the following documents:
  • Main text
View BVdb publication page