RUNX2 c.252G>C ;(p.A84=)

Variant ID: 6-45390523-G-C

NM_001024630.3(RUNX2):c.252G>C;(p.A84=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: RUNX2: A84A
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Crystal Structure and Magnetism of Noncentrosymmetric Eu2Pd2Sn.

Inorganic Chemistry
Giovannini, Mauro M; Čurlík, Ivan I; Freccero, Riccardo R; Solokha, Pavlo P; Reiffers, Marian M; Sereni, Julian J
Publication Date: 2021-06-07

Variant appearance in text: CCD: A84A
PubMed Link: 34028265
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural insights into recognition of acetylated histone ligands by the BRPF1 bromodomain.

Febs Letters
Lubula, Mulu Y MY; Eckenroth, Brian E BE; Carlson, Samuel S; Poplawski, Amanda A; Chruszcz, Maksymilian M; Glass, Karen C KC
Publication Date: 2014-11-03

Variant appearance in text: CCD: A84A
PubMed Link: 25281266
Variant Present in the following documents:
  • Main text
View BVdb publication page