TET1 c.1780_1781delinsGC ;(p.C594A)

Variant ID: 10-70333875-TG-GC

NM_030625.2(TET1):c.1780_1781delinsGC;(p.C594A)

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:

TET1 is a maintenance DNA demethylase that prevents methylation spreading in differentiated cells.

Nucleic Acids Research
Jin, Chunlei C; Lu, Yue Y; Jelinek, Jaroslav J; Liang, Shoudan S; Estecio, Marcos R H MR; Barton, Michelle Craig MC; Issa, Jean-Pierre J JP
Publication Date: 2014-06

Variant appearance in text: TET1: C594A
PubMed Link: 24875481
Variant Present in the following documents:
  • Main text
  • supp_gku372_nar-01021-h-2014-File009.pdf
  • gku372.pdf
View BVdb publication page