AVP c.268_270delinsTGT ;(p.K90C)

Variant ID: 20-3063675-CTT-ACA

NM_000490.4(AVP):c.268_270delinsTGT;(p.K90C)

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:

Conserved F84 and P86 residues in alphaB-crystallin are essential to effectively prevent the aggregation of substrate proteins.

Protein Science : A Publication Of The Protein Society
Santhoshkumar, Puttur P; Sharma, K Krishna KK
Publication Date: 2006-11

Variant appearance in text: ADH: K90C
PubMed Link: 17075130
Variant Present in the following documents:
  • Main text
View BVdb publication page