NF1 c.6226G>A ;(p.D2076N)

Variant ID: 17-29663731-G-A

NM_001042492.2(NF1):c.6226G>A;(p.D2076N)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

CD8+ cell somatic mutations in multiple sclerosis patients and controls-Enrichment of mutations in STAT3 and other genes implicated in hematological malignancies.

Plos One
Valori, Miko M; Jansson, Lilja L; Tienari, Pentti J PJ
Publication Date: 2021

Variant appearance in text: NF1: D2076N
PubMed Link: 34874980
Variant Present in the following documents:
  • pone.0261002.s008.xlsx, sheet 1
View BVdb publication page


CD8+ cell somatic mutations in multiple sclerosis patients and controls-Enrichment of mutations in STAT3 and other genes implicated in hematological malignancies.

Plos One
Valori, Miko M; Jansson, Lilja L; Tienari, Pentti J PJ
Publication Date: 2021

Variant appearance in text: NF1: D2076N
PubMed Link: 34874980
Variant Present in the following documents:
  • pone.0261002.s008.xlsx, sheet 1
View BVdb publication page