Varaico: Literature-Extracted Genetic Variants

Gene:TTC5
Variant:p.R392Q

TTC5

37 papers

Pfam Domains

TTC5_OBaa 318–432UCSCTetratricopeptide repeat protein 5 OB fold domain

Gene Aliases

HGNC Name

tetratricopeptide repeat domain 5

HGNC Alias Name

Stress-responsive activator of p300

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138376.3
p.R392Q
c.1175G>A
Surrounding Variants
3 papers
NM_138376.3
p.R395*
c.1183C>T
1 paper
NM_138376.3
p.S383delFs
c.1148_1149delAG
1 paper
NM_138376.3
p.K401_D402Splc
c.1204-2A>G
1 paper
NM_138376.3
p.R409*
c.1225C>T
1 paper
NM_138376.3
p.T412M
c.1235C>T
1 paper
NM_138376.3
p.G424V
c.1271G>T
1 paper
NM_138376.3
p.S435L
c.1304C>T
1 paper
NM_138376.3
p.G339A
c.1016G>C
1 paper
NM_138376.3
p.V336I
c.1006G>A
1 paper
NM_138376.3
p.P329L
c.986C>T
2 papers
NM_138376.3
p.Y309C
c.926A>G
3 papers
NM_138376.3
p.R263*
c.787C>T
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