TSC2 c.3131G>C ;(p.R1044T)

Variant ID: 16-2129197-G-C

NM_000548.3(TSC2):c.3131G>C;(p.R1044T)

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:

Architecture of the Tuberous Sclerosis Protein Complex.

Journal Of Molecular Biology
Ramlaul, Kailash K; Fu, Wencheng W; Li, Hua H; de Martin Garrido, Natàlia N; He, Lin L; Trivedi, Manjari M; Cui, Wei W; Aylett, Christopher H S CHS; Wu, Geng G
Publication Date: 2021-01-22

Variant appearance in text: TSC2: R1044T
PubMed Link: 33307091
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page