Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD30B
Variant:p.S1361N

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.S1361N
c.4082G>A
Surrounding Variants
1 paper
NM_001367607.2
p.R1374I
c.4121G>T
1 paper
NM_001367607.2
p.N1345K
c.4035T>A
1 paper
NM_001367607.2
p.N1345K
c.4035T>G
1 paper
NM_001367607.2
p.Q1318*
c.3952C>T
1 paper
NM_001367607.2
p.T1412A
c.4234A>G
1 paper
NM_001367607.2
p.K1421*
c.4261A>T
1 paper
NM_001367607.2
p.V1256I
c.3766G>A
1 paper
NM_001367607.2
p.E1492_V1493Splc
c.4476+9C>T
1 paper
NM_001367607.2
p.D1146Y
c.3436G>T
1 paper
NM_001367607.2
p.Q1497*
c.4489C>T
1 paper
NM_001367607.2
p.S1517L
c.4550C>T
1 paper
NM_001367607.2
p.Q1116E
c.3346C>G
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