Varaico: Literature-Extracted Genetic Variants

Gene:TTC31
Variant:p.H472Q

TTC31

41 papers

Pfam Domains

TPR_16aa 309–373UCSCTetratricopeptide repeat
TPR_16aa 377–419UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

tetratricopeptide repeat domain 31

HGNC Alias Symbol

FLJ12788

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_022492.6
p.H472Q
c.1416T>G
Surrounding Variants
2 papers
NM_022492.6
p.H472Q
c.1416T>A
1 paper
NM_022492.6
p.L470F
c.1408C>T
1 paper
NM_022492.6
p.R458*
c.1372C>T
1 paper
NM_022492.6
p.P452R
c.1355C>G
1 paper
NM_022492.6
p.P495R
c.1484C>G
1 paper
NM_022492.6
p.D500H
c.1498G>C
1 paper
NM_022492.6
p.L438H
c.1313T>A
1 paper
NM_022492.6
p.L438I
c.1312C>A
1 paper
NM_022492.6
p.Q513_L515insFs
c.1537_1543dup7
1 paper
NM_022492.6
p.L515fs
c.1543_1544fs
1 paper
NM_022492.6
p.G402D
c.1205G>A
1 paper
NM_022492.6
p.R388C
c.1162C>T
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