Varaico: Literature-Extracted Genetic Variants

Gene:TTC19
Variant:p.L324P

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
8 papers
NM_017775.4
p.L324P
c.971T>C
Surrounding Variants
2 papers
NM_017775.4
p.S322_N323delFs
c.964_967del4
1 paper
NM_017775.4
p.V327A
c.980T>C
2 papers
NM_017775.4
p.L321_S322delFs
c.963_966del4
1 paper
NM_017775.4
p.E332Q
c.994G>C
1 paper
NM_017775.4
p.L289L
c.867G>A
1 paper
NM_017775.4
p.T287_T288del1
c.861_863delTAC
1 paper
NM_017775.4
p.I279V
c.835A>G
1 paper
NM_017775.4
p.T335I
c.1004C>T
1 paper
NM_017775.4
p.Q347Q
c.1041A>G
4 papers
NM_017775.4
p.Q277_T278Splc
c.831+2T>A
11 papers
NM_017775.4
p.Q277*
c.829C>T
1 paper
NM_017775.4
p.R274G
c.820A>G
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."