Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD36B
Variant:p.R261P

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
4 papers
NM_001393939.1
p.R261P
c.782G>C
Surrounding Variants
1 paper
NM_001393939.1
p.P257S
c.769C>T
1 paper
NM_001393939.1
p.K281insFs
c.842_843dupAG
1 paper
NM_001393939.1
p.A299fs
c.895_896fs
1 paper
NM_001393939.1
p.D302V
c.905A>T
1 paper
NM_001393939.1
p.V323Splc
c.967+76G>A
1 paper
NM_001393939.1
p.M349T
c.1046T>C
1 paper
NM_001393939.1
p.A413fs
c.1237_1238fs
1 paper
NM_001393939.1
p.K430Q
c.1288A>C
1 paper
NM_001393939.1
p.K430T
c.1289A>C
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