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