Varaico: Literature-Extracted Genetic Variants

Gene:TTPAL
Variant:p.S18fs

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.S18fs
c.52_53fs
Surrounding Variants
1 paper
NM_001039199.3
p.S18insFs
c.53_54insGA
1 paper
NM_001039199.3
p.P12A
c.34C>G
1 paper
NM_001039199.3
p.W53_R54insGA
c.157_161ins6
1 paper
NM_001039199.3
p.P70T
c.208C>A
1 paper
NM_001039199.3
p.V112L
c.334G>C
1 paper
NM_001039199.3
p.S119L
c.356C>T
1 paper
NM_001039199.3
p.R147C
c.439C>T
1 paper
NM_001039199.3
p.R147H
c.440G>A
1 paper
NM_001039199.3
p.A164V
c.491C>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.R230L
c.689G>T
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