Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD36B
Variant:p.L1065F

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
2 papers
NM_001393939.1
p.L1065F
c.3193C>T
Surrounding Variants
1 paper
NM_001393939.1
p.D1062Fs
c.3184delinsTGFs
3 papers
NM_001393939.1
p.K1060E
c.3178A>G
1 paper
NM_001393939.1
p.H1057H
c.3171C>T
4 papers
NM_001393939.1
p.R1050L
c.3149G>T
1 paper
NM_001393939.1
p.L1046L
c.3138G>C
1 paper
NM_001393939.1
p.S1083fs
c.3247_3248fs
1 paper
NM_001393939.1
p.H1084fs
c.3250_3251fs
2 papers
NM_001393939.1
p.H1084fs
c.3250_3251fs
3 papers
NM_001393939.1
p.H1084delFs
c.3250_3251delTG
1 paper
NM_001393939.1
p.S1083_H1084delFs
c.3248_3251del4
1 paper
NM_001393939.1
p.V1085insFs
c.3254_3255insAT
2 papers
NM_001393939.1
p.V1085insFs
c.3254_3255insA
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