Varaico: Literature-Extracted Genetic Variants

Gene:TTC14
Variant:p.E555Q

TTC14

44 papers

Pfam Domains

TPR_11aa 314–355UCSCTPR repeat

Gene Aliases

HGNC Name

tetratricopeptide repeat domain 14

HGNC Alias Symbols

FLJ00166; KIAA1980

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_133462.4
p.E555Q
c.1663G>C
Surrounding Variants
1 paper
NM_133462.4
p.E555D
c.1665G>C
1 paper
NM_133462.4
p.E555D
c.1665G>T
1 paper
NM_133462.4
p.S603R
c.1807A>C
1 paper
NM_133462.4
p.S603R
c.1809C>A
1 paper
NM_133462.4
p.S603R
c.1809C>G
1 paper
NM_133462.4
p.T606T
c.1818C>T
3 papers
NM_133462.4
p.S495F
c.1484C>T
1 paper
NM_133462.4
p.E486Q
c.1456G>C
1 paper
NM_133462.4
p.K471_R473delFs
c.1413_1417del5
1 paper
NM_133462.4
p.Y642Y
c.1926T>C
1 paper
NM_133462.4
p.D650fs
c.1948_1949fs
1 paper
NM_133462.4
p.H690Y
c.2068C>T
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