Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD18B
Variant:p.R66K

ANKRD18B

32 papers

Pfam Domains

Ank_2aa 38–131UCSCAnkyrin repeats (3 copies)
Ank_2aa 124–197UCSCAnkyrin repeats (3 copies)
CCDC144Caa 331–739UCSCCCDC144C protein coiled-coil region
DUF3496aa 934–1040UCSCDomain of unknown function (DUF3496)

Gene Aliases

HGNC Name

ankyrin repeat domain 18B

HGNC Alias Symbol

bA255A11.3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001393611.1
p.R66K
c.197G>A
Surrounding Variants
1 paper
NM_001393611.1
p.R59W
c.175C>T
1 paper
NM_001393611.1
p.C53Y
c.158G>A
1 paper
NM_001393611.1
p.A47G
c.140C>G
1 paper
NM_001393611.1
p.G45G
c.135C>T
1 paper
NM_001393611.1
p.A41V
c.122C>T
1 paper
NM_001393611.1
p.Y28fs
c.82_83fs
2 papers
NM_001393611.1
p.R26insFs
c.77dupG
1 paper
NM_001393611.1
p.R26fs
c.76_77fs
1 paper
NM_001393611.1
p.A75A
c.225C>T
1 paper
NM_001393611.1
p.C76_A77insG
c.226_230ins3
1 paper
NM_001393611.1
p.N101K
c.303C>A
1 paper
NM_001393611.1
p.N101K
c.303C>G
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