Varaico: Literature-Extracted Genetic Variants

Gene:TTC19
Variant:p.L219*

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
17 papers
NM_017775.4
p.L219*
c.656T>G
Surrounding Variants
16 papers
NM_017775.4
p.L219*
c.656T>A
3 papers
NM_017775.4
p.L219S
c.656T>C
2 papers
NM_017775.4
p.L209P
c.626T>C
3 papers
NM_017775.4
p.A200_G201delFs
c.600_603del4
1 paper
NM_017775.4
p.Q195*
c.583C>T
3 papers
NM_017775.4
p.R194delFs
c.581delG
2 papers
NM_017775.4
p.R194fs
c.580_581fs
2 papers
NM_017775.4
p.Q192*
c.574C>T
1 paper
NM_017775.4
p.A191insFs
c.572_573ins4
9 papers
NM_017775.4
p.L185P
c.554T>C
3 papers
NM_017775.4
p.L183L
c.547C>T
3 papers
NM_017775.4
p.S182P
c.544T>C
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