Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD36B
Variant:p.I654K

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.I654K
c.1961T>A
Surrounding Variants
1 paper
NM_001393939.1
p.R634P
c.1901G>C
2 papers
NM_001393939.1
p.T689M
c.2066C>T
1 paper
NM_001393939.1
p.S614L
c.1841C>T
1 paper
NM_001393939.1
p.E724D
c.2172G>T
1 paper
NM_001393939.1
p.E724D
c.2172G>C
1 paper
NM_001393939.1
p.K553K
c.1659G>A
1 paper
NM_001393939.1
p.A549T
c.1645G>A
5 papers
NM_001393939.1
p.D543N
c.1627G>A
6 papers
NM_001393939.1
p.D520N
c.1558G>A
3 papers
NM_001393939.1
p.K519_D520delins
c.1557_1558delinsGA
1 paper
NM_001393939.1
p.K519K
c.1557A>G
2 papers
NM_001393939.1
p.Q497K
c.1489C>A
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