Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD36B
Variant:p.K519K

ANKRD36B

112 papers

Pfam Domains

Ank_2aa 24–116UCSCAnkyrin repeats (3 copies)
Ank_2aa 123–215UCSCAnkyrin repeats (3 copies)
CCDC144Caa 933–1291UCSCCCDC144C protein coiled-coil region

Gene Aliases

HGNC Name

ankyrin repeat domain 36B

HGNC Previous Symbol

KIAA1641

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001393939.1
p.K519K
c.1557A>G
Surrounding Variants
6 papers
NM_001393939.1
p.D520N
c.1558G>A
3 papers
NM_001393939.1
p.K519_D520delins
c.1557_1558delinsGA
2 papers
NM_001393939.1
p.Q497K
c.1489C>A
4 papers
NM_001393939.1
p.E496D
c.1488G>T
4 papers
NM_001393939.1
p.E496D
c.1488G>C
1 paper
NM_001393939.1
p.E496K
c.1486G>A
2 papers
NM_001393939.1
p.F495S
c.1484T>C
1 paper
NM_001393939.1
p.V493Splc
c.1478-21T>G
5 papers
NM_001393939.1
p.D543N
c.1627G>A
1 paper
NM_001393939.1
p.A549T
c.1645G>A
1 paper
NM_001393939.1
p.K553K
c.1659G>A
3 papers
NM_001393939.1
p.E483G
c.1448A>G
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