HP c.694G>A ;(p.E232K)

Variant ID: 16-72094262-G-A

NM_005143.3(HP):c.694G>A;(p.E232K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03

Variant appearance in text: HP: 694G>A; E232K
PubMed Link: 35176222
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page



HAMP Domain Rotation and Tilting Movements Associated with Signal Transduction in the PhoQ Sensor Kinase.

Mbio
Matamouros, Susana S; Hager, Kyle R KR; Miller, Samuel I SI
Publication Date: 2015-05-26

Variant appearance in text: HP: E232K
PubMed Link: 26015499
Variant Present in the following documents:
  • Main text
  • mBio.00616-15.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: HP: E232K
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



GRAS proteins form a DNA binding complex to induce gene expression during nodulation signaling in Medicago truncatula.

The Plant Cell
Hirsch, Sibylle S; Kim, Jiyoung J; Muñoz, Alfonso A; Heckmann, Anne B AB; Downie, J Allan JA; Oldroyd, Giles E D GE
Publication Date: 2009-02

Variant appearance in text: HP: E232K
PubMed Link: 19252081
Variant Present in the following documents:
  • Main text
View BVdb publication page