Varaico: Literature-Extracted Genetic Variants

Gene:TTC19
Variant:p.L185P

TTC19

77 papers

RefSeq Summary

This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and pl...

Pfam Domains

TPR_12aa 244–311UCSCTetratricopeptide repeat
TPR_10aa 319–346UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

tetratricopeptide repeat domain 19

HGNC Alias Symbols

FLJ20343; MGC19520

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_017775.4
p.L185P
c.554T>C
Surrounding Variants
3 papers
NM_017775.4
p.L183L
c.547C>T
3 papers
NM_017775.4
p.S182P
c.544T>C
1 paper
NM_017775.4
p.A191insFs
c.572_573ins4
2 papers
NM_017775.4
p.Q192*
c.574C>T
3 papers
NM_017775.4
p.R194delFs
c.581delG
2 papers
NM_017775.4
p.R194fs
c.580_581fs
1 paper
NM_017775.4
p.Q173R
c.518A>G
14 papers
NM_017775.4
p.Q173*
c.517C>T
1 paper
NM_017775.4
p.Q173fs
c.517_518fs
1 paper
NM_017775.4
p.L158insFs
c.472_473insC
1 paper
NM_017775.4
p.E156V
c.467A>T
1 paper
NM_017775.4
p.Q151*
c.451C>T
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."