BBS7 c.553_555delinsTTT ;(p.E185F)

Variant ID: 4-122776690-TTC-AAA

NM_176824.2(BBS7):c.553_555delinsTTT;(p.E185F)

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:

Venus: Elucidating the Impact of Amino Acid Variants on Protein Function Beyond Structure Destabilisation.

Journal Of Molecular Biology
Ferla, Matteo P MP; Pagnamenta, Alistair T AT; Koukouflis, Leonidas L; Taylor, Jenny C JC; Marsden, Brian D BD
Publication Date: 2022-06-15

Variant appearance in text: BBS7: E185F
PubMed Link: 35662467
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page