ANO5 c.1255G>A ;(p.E419K)

Variant ID: 11-22276991-G-A

NM_213599.2(ANO5):c.1255G>A;(p.E419K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome.

Nature Communications
Davies, Helen R HR; Hodgson, Kirsty K; Schwalbe, Edward E; Coxhead, Jonathan J; Sinclair, Naomi N; Zou, Xueqing X; Cockell, Simon S; Husain, Akhtar A; Nik-Zainal, Serena S; Rajan, Neil N
Publication Date: 2019-10-17

Variant appearance in text: ANO5: 1255G>A; E419K
PubMed Link: 31624251
Variant Present in the following documents:
  • 41467_2019_12746_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page