Varaico: Literature-Extracted Genetic Variants

Gene:TTC19
Variant:p.G79*

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.G79*
c.235G>T
Surrounding Variants
1 paper
NM_017775.4
p.Q77fs
c.229_230fs
3 papers
NM_017775.4
p.Q77fs
c.229_230fs
1 paper
NM_017775.4
p.E74Q
c.220G>C
5 papers
NM_017775.4
p.A71_Q77insFs
c.213_229dup17
1 paper
NM_017775.4
p.S67*
c.200C>A
1 paper
NM_017775.4
p.A92fs
c.274_275fs
1 paper
NM_017775.4
p.A92_E93delFs
c.275_278del4
3 papers
NM_017775.4
p.W65*
c.195G>A
2 papers
NM_017775.4
p.W65*
c.194G>A
1 paper
NM_017775.4
p.K104*
c.310A>T
1 paper
NM_017775.4
p.A62Splc
c.184+1G>A
1 paper
NM_017775.4
p.L59L
c.175C>T
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