HEXA c.988_990delinsTGT ;(p.K330C)

Variant ID: 15-72640472-CTT-ACA

NM_000520.4(HEXA):c.988_990delinsTGT;(p.K330C)

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:

Nanosecond Dynamics of Gαi1 Bound to Nucleotides or Ric-8A, a Gα Chaperone with GEF Activity.

Biophysical Journal
Black, Labe A LA; Thomas, Celestine J CJ; Nix, Gwendolyn N GN; Terwilliger, Michelle C MC; Sprang, Stephen R SR; Ross, J B Alexander JBA
Publication Date: 2016-08-23

Variant appearance in text: HEXA: K330C
PubMed Link: 27558716
Variant Present in the following documents:
  • Main text
View BVdb publication page