Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD36B
Variant:p.E880insFs

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.E880insFs
c.2639_2640ins4
Surrounding Variants
1 paper
NM_001393939.1
p.E880fs
c.2638_2639fs
3 papers
NM_001393939.1
p.I877M
c.2631A>G
3 papers
NM_001393939.1
p.E896G
c.2687A>G
5 papers
NM_001393939.1
p.E902K
c.2704G>A
2 papers
NM_001393939.1
p.Y905C
c.2714A>G
3 papers
NM_001393939.1
p.Y905*
c.2715T>G
2 papers
NM_001393939.1
p.Y905*
c.2715T>A
1 paper
NM_001393939.1
p.Y905delins
c.2714_2715delinsGG
3 papers
NM_001393939.1
p.R906K
c.2717G>A
6 papers
NM_001393939.1
p.V911M
c.2731G>A
7 papers
NM_001393939.1
p.V911A
c.2732T>C
1 paper
NM_001393939.1
p.V911delins
c.2731_2732delinsAC
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