Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD30B
Variant:p.K977K

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
5 papers
NM_001367607.2
p.K977K
c.2931G>A
Surrounding Variants
2 papers
NM_001367607.2
p.S991L
c.2972C>T
1 paper
NM_001367607.2
p.T992I
c.2975C>T
1 paper
NM_001367607.2
p.R962H
c.2885G>A
1 paper
NM_001367607.2
p.E961K
c.2881G>A
1 paper
NM_001367607.2
p.T1013K
c.3038C>A
1 paper
NM_001367607.2
p.P1037fs
c.3109_3110fs
1 paper
NM_001367607.2
p.T947P
c.2839A>C
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