Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD54

ANKRD54

10 papers

Pfam Domains

Ank_5aa 9–63UCSCAnkyrin repeats (many copies)
Ank_2aa 114–173UCSCAnkyrin repeats (3 copies)
Ank_2aa 169–236UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 54

HGNC Alias Symbol

LIAR

Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
1 paper
NM_138797.4
p.P12S
c.34C>T
1 paper
NM_138797.4
p.G60fs
c.178_179fs
1 paper
NM_138797.4
p.L65L
c.195G>A
1 paper
NM_138797.4
p.Q73*
c.217C>T
1 paper
NM_138797.4
p.L71_D80del0
c.211_240del30
1 paper
NM_138797.4
p.A120A
c.360C>T
1 paper
NM_138797.4
p.F149L
c.445T>C
1 paper
NM_138797.4
p.F149L
c.447T>G
1 paper
NM_138797.4
p.F149L
c.447T>A
1 paper
NM_138797.4
p.C185C
c.555C>T
1 paper
NM_138797.4
p.I192V
c.574A>G
1 paper
NM_138797.4
p.R300fs
c.898_899fs
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