MTHFR c.1589A>G ;(p.K530R)

Variant ID: 1-11852378-T-C

NM_005957.4(MTHFR):c.1589A>G;(p.K530R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Comprehensive genomic analysis of refractory multiple myeloma reveals a complex mutational landscape associated with drug resistance and novel therapeutic vulnerabilities.

Haematologica
Giesen, Nicola N; Paramasivam, Nagarajan N; Toprak, Umut H UH; Huebschmann, Daniel D; Xu, Jing J; Uhrig, Sebastian S; Samur, Mehmet M; Bähr, Stella S; Fröhlich, Martina M; Mughal, Sadaf S SS; Mai, Elias K EK; Jauch, Anna A; Müller-Tidow, Carsten C; Brors, Benedikt B; Munshi, Nikhil N; Goldschmidt, Hartmut H; Weinhold, Niels N; Schlesner, Matthias M; Raab, Marc S MS
Publication Date: 2022-08-01

Variant appearance in text: MTHFR: K530R
PubMed Link: 35045690
Variant Present in the following documents:
  • 2021_279360_GIESEN_TABS2_SUPPL.xlsx, sheet 1
View BVdb publication page



Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry.

Bmc Genomics
Thareja, Gaurav G; John, Sumi Elsa SE; Hebbar, Prashantha P; Behbehani, Kazem K; Thanaraj, Thangavel Alphonse TA; Alsmadi, Osama O
Publication Date: 2015-02-18

Variant appearance in text: MTHFR: Lys530Arg
PubMed Link: 25765185
Variant Present in the following documents:
  • Main text
  • 12864_2015_Article_1233.pdf
View BVdb publication page