MSH6 c.862G>A ;(p.E288K)

Variant ID: 2-48025984-G-A

NM_000179.2(MSH6):c.862G>A;(p.E288K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency.

Dna Repair
Vasovcak, P P; Krepelova, A A; Menigatti, M M; Puchmajerova, A A; Skapa, P P; Augustinakova, A A; Amann, G G; Wernstedt, A A; Jiricny, J J; Marra, G G; Wimmer, K K
Publication Date: 2012-07-01

Variant appearance in text: MSH6: 862G>A
PubMed Link: 22608206
Variant Present in the following documents:
  • Main text
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