BRCA1 c.2305_2306delinsGC ;(p.I769A)

Variant ID: 17-41245242-AT-GC

NM_007294.3(BRCA1):c.2305_2306delinsGC;(p.I769A)

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:

SUMO1 negatively regulates BRCA1-mediated transcription, via modulation of promoter occupancy.

Nucleic Acids Research
Park, Mi Ae MA; Seok, Yeong-Jae YJ; Jeong, Gajin G; Lee, Jong-Soo JS
Publication Date: 2008-01

Variant appearance in text: BRCA1: I769A
PubMed Link: 18025037
Variant Present in the following documents:
  • Main text
  • gkm969.pdf
View BVdb publication page