HR c.1585G>A ;(p.E529K)

Variant ID: 8-21982989-C-T

NM_005144.4(HR):c.1585G>A;(p.E529K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic evidence for the involvement of mismatch repair proteins, PMS2 and MLH3, in a late step of homologous recombination.

The Journal Of Biological Chemistry
Rahman, Md Maminur MM; Mohiuddin, Mohiuddin M; Shamima Keka, Islam I; Yamada, Kousei K; Tsuda, Masataka M; Sasanuma, Hiroyuki H; Andreani, Jessica J; Guerois, Raphael R; Borde, Valerie V; Charbonnier, Jean-Baptiste JB; Takeda, Shunichi S
Publication Date: 2020-12-18

Variant appearance in text: HR: E529K
PubMed Link: 33453991
Variant Present in the following documents:
  • Main text
View BVdb publication page



Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.

Journal Of Inherited Metabolic Disease
Krijt, Jakub J; Kopecká, Jana J; Hnízda, Aleš A; Moat, Stuart S; Kluijtmans, Leo A J LA; Mayne, Philip P; Kožich, Viktor V
Publication Date: 2011-02

Variant appearance in text: HR: E529K
PubMed Link: 20821054
Variant Present in the following documents:
  • 10545_2011_Article_9371.pdf
View BVdb publication page