Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD54
Variant:p.I192V

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
Selected Variant
1 paper
NM_138797.4
p.I192V
c.574A>G
Surrounding Variants
1 paper
NM_138797.4
p.C185C
c.555C>T
1 paper
NM_138797.4
p.R300fs
c.898_899fs
1 paper
NM_138797.4
p.R300delFs
c.900delC
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.F149L
c.445T>C
1 paper
NM_138797.4
p.A120A
c.360C>T
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