Varaico: Literature-Extracted Genetic Variants

Gene:TTC5
Variant:p.Y240*

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
3 papers
NM_138376.3
p.Y240*
c.720T>G
Surrounding Variants
2 papers
NM_138376.3
p.S239_Y240insFs
c.716_719dup4
3 papers
NM_138376.3
p.Y240*
c.720T>A
1 paper
NM_138376.3
p.Y240insFs
c.719_720ins4
1 paper
NM_138376.3
p.A243G
c.728C>G
1 paper
NM_138376.3
p.A250T
c.748G>A
1 paper
NM_138376.3
p.W257*
c.770G>A
1 paper
NM_138376.3
p.W257*
c.771G>A
3 papers
NM_138376.3
p.R263*
c.787C>T
2 papers
NM_138376.3
p.Y309C
c.926A>G
1 paper
NM_138376.3
p.P329L
c.986C>T
1 paper
NM_138376.3
p.V336I
c.1006G>A
1 paper
NM_138376.3
p.G339A
c.1016G>C
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