Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD30B
Variant:p.E348K

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.E348K
c.1042G>A
Surrounding Variants
1 paper
NM_001367607.2
p.E348D
c.1044G>C
1 paper
NM_001367607.2
p.E348D
c.1044G>T
1 paper
NM_001367607.2
p.E345D
c.1035A>C
1 paper
NM_001367607.2
p.E345D
c.1035A>T
1 paper
NM_001367607.2
p.S351*
c.1052C>A
1 paper
NM_001367607.2
p.S351*
c.1052C>G
2 papers
NM_001367607.2
p.S351L
c.1052C>T
1 paper
NM_001367607.2
p.K344fs
c.1030_1031fs
1 paper
NM_001367607.2
p.R357*
c.1069A>T
1 paper
NM_001367607.2
p.R337R
c.1011G>A
1 paper
NM_001367607.2
p.T335S
c.1003A>T
1 paper
NM_001367607.2
p.E334K
c.1000G>A
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