Varaico: Literature-Extracted Genetic Variants

Gene:TTC7B
Variant:p.R308W

TTC7B

49 papers

Pfam Domains

TTC7_Naa 1–386UCSCTetratricopeptide repeat protein 7 N-terminal
TPR_8aa 397–430UCSCTetratricopeptide repeat
TPR_8aa 397–430UCSCTetratricopeptide repeat
ANAPC3aa 494–575UCSCAnaphase-promoting complex, cyclosome, subunit 3
ANAPC3aa 494–575UCSCAnaphase-promoting complex, cyclosome, subunit 3
TPR_12aa 728–795UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

tetratricopeptide repeat domain 7B

HGNC Previous Symbol

TTC7L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001010854.2
p.R308W
c.922C>T
Surrounding Variants
1 paper
NM_001010854.2
p.A310T
c.928G>A
1 paper
NM_001010854.2
p.R296H
c.887G>A
1 paper
NM_001010854.2
p.N280I
c.839A>T
1 paper
NM_001010854.2
p.T251K
c.752C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."