Varaico: Literature-Extracted Genetic Variants

Gene:TTC19
Variant:p.Y127C

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.Y127C
c.380A>G
Surrounding Variants
1 paper
NM_017775.4
p.E111K
c.331G>A
1 paper
NM_001271420.2
p.M1V
c.1A>G
1 paper
NM_017775.4
p.I107F
c.319A>T
1 paper
NM_017775.4
p.L141_M142Splc
c.424-80G>A
1 paper
NM_017775.4
p.G150_E153del4
c.448_458del12
1 paper
NM_017775.4
p.Q151*
c.451C>T
1 paper
NM_017775.4
p.K104*
c.310A>T
1 paper
NM_017775.4
p.A92fs
c.274_275fs
1 paper
NM_017775.4
p.A92_E93delFs
c.275_278del4
1 paper
NM_017775.4
p.G79*
c.235G>T
1 paper
NM_017775.4
p.Q77fs
c.229_230fs
3 papers
NM_017775.4
p.Q77fs
c.229_230fs
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