Varaico: Literature-Extracted Genetic Variants

Gene:TTC19
Variant:p.A62Splc

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.A62Splc
c.184+1G>A
Surrounding Variants
1 paper
NM_017775.4
p.L59L
c.175C>T
1 paper
NM_017775.4
p.L56L
c.166C>T
1 paper
NM_017775.4
p.P54fs
c.160_161fs
6 papers
NM_017775.4
p.P54fs
c.160_161fs
6 papers
NM_017775.4
p.G53insFs
c.157_158dupGG
5 papers
NM_017775.4
p.R52fs
c.154_155fs
4 papers
NM_017775.4
p.H50_G51delFs
c.150_153del4
1 paper
NM_017775.4
p.P49L
c.146C>T
1 paper
NM_017775.4
p.V42V
c.126G>C
1 paper
NM_017775.4
p.Q41R
c.122A>G
2 papers
NM_017775.4
p.W65*
c.194G>A
3 papers
NM_017775.4
p.W65*
c.195G>A
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