Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD30B
Variant:p.M1093L

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.M1093L
c.3277A>T
Surrounding Variants
1 paper
NM_001367607.2
p.M1093L
c.3277A>C
1 paper
NM_001367607.2
p.M1093I
c.3279G>A
1 paper
NM_001367607.2
p.M1093I
c.3279G>C
1 paper
NM_001367607.2
p.M1093I
c.3279G>T
1 paper
NM_001367607.2
p.Q1095*
c.3283C>T
1 paper
NM_001367607.2
p.V1102V
c.3306A>T
1 paper
NM_001367607.2
p.D1070E
c.3210T>A
1 paper
NM_001367607.2
p.D1070E
c.3210T>G
1 paper
NM_001367607.2
p.Q1116E
c.3346C>G
1 paper
NM_001367607.2
p.D1146Y
c.3436G>T
1 paper
NM_001367607.2
p.V1256I
c.3766G>A
1 paper
NM_001367607.2
p.Q1318*
c.3952C>T
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