Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD30B
Variant:p.K399N

ANKRD30B

96 papers

Pfam Domains

Ank_2aa 42–136UCSCAnkyrin repeats (3 copies)
Ank_2aa 143–235UCSCAnkyrin repeats (3 copies)
CCDC144Caa 1188–1523UCSCCCDC144C protein coiled-coil region

Gene Aliases

HGNC Name

ankyrin repeat domain 30B

HGNC Alias Symbol

NY-BR-1.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001367607.2
p.K399N
c.1197A>T
Surrounding Variants
1 paper
NM_001367607.2
p.K399N
c.1197A>C
1 paper
NM_001367607.2
p.K399E
c.1195A>G
1 paper
NM_001367607.2
p.T390I
c.1169C>T
1 paper
NM_001367607.2
p.P380S
c.1138C>T
1 paper
NM_001367607.2
p.T379K
c.1136C>A
1 paper
NM_001367607.2
p.E373D
c.1119A>C
1 paper
NM_001367607.2
p.E373D
c.1119A>T
1 paper
NM_001367607.2
p.E373G
c.1118A>G
1 paper
NM_001367607.2
p.V370L
c.1108G>C
1 paper
NM_001367607.2
p.V370L
c.1108G>T
1 paper
NM_001367607.2
p.T362T
c.1086A>T
1 paper
NM_001367607.2
p.R357*
c.1069A>T
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