Varaico: Literature-Extracted Genetic Variants

Gene:TTPAL
Variant:p.Y274H

TTPAL

20 papers

Pfam Domains

UBA_Pintaaa 38–122UCSCPinta-like, UBA domain
CRAL_TRIOaa 126–276UCSCCRAL/TRIO domain

Gene Aliases

HGNC Name

alpha tocopherol transfer protein like

HGNC Previous Symbol

C20orf121

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001039199.3
p.Y274H
c.820T>C
Surrounding Variants
1 paper
NM_001039199.3
p.L270F
c.808C>T
1 paper
NM_001039199.3
p.A288T
c.862G>A
1 paper
NM_001039199.3
p.P306S
c.916C>T
1 paper
NM_001039199.3
p.C308R
c.922T>C
1 paper
NM_001039199.3
p.E319G
c.956A>G
1 paper
NM_001039199.3
p.E245E
c.735G>A
1 paper
NM_001039199.3
p.R230L
c.689G>T
1 paper
NM_001039199.3
p.G182R
c.544G>A
1 paper
NM_001039199.3
p.G182R
c.544G>C
1 paper
NM_001039199.3
p.A164V
c.491C>T
1 paper
NM_001039199.3
p.R147H
c.440G>A
1 paper
NM_001039199.3
p.R147C
c.439C>T
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