Varaico: Literature-Extracted Genetic Variants

Gene:TTC19
Variant:p.S254P

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
1 paper
NM_017775.4
p.S254P
c.760T>C
Surrounding Variants
1 paper
NM_017775.4
p.Y260delFs
c.779_780delAT
1 paper
NM_017775.4
p.E261fs
c.781_782fs
3 papers
NM_017775.4
p.E261fs
c.781_782fs
2 papers
NM_017775.4
p.E261_K262delFs
c.782_786del5
2 papers
NM_017775.4
p.E261_K262Fs
c.782_786delinsGAAAAGFs
1 paper
NM_017775.4
p.K262Fs
c.786delinsGAAAAGFs
1 paper
NM_017775.4
p.R245L
c.734G>T
1 paper
NM_017775.4
p.A263S
c.787G>T
1 paper
NM_017775.4
p.A242T
c.724G>A
1 paper
NM_017775.4
p.L240fs
c.718_719fs
1 paper
NM_017775.4
p.L240fs
c.718_719fs
2 papers
NM_017775.4
p.L240_A244delFs
c.719_732del14
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