Varaico: Literature-Extracted Genetic Variants

Gene:ABTB3
Variant:p.R786C

ABTB3

86 papers

Pfam Domains

Histone_ABTBaa 98–239UCSCHistone domain in ABTB family protein
Ankaa 603–633UCSCAnkyrin repeat
Ank_2aa 635–718UCSCAnkyrin repeats (3 copies)
Ank_2aa 635–718UCSCAnkyrin repeats (3 copies)
BTBaa 914–1022UCSCBTB/POZ domain

Gene Aliases

HGNC Name

ankyrin repeat and BTB domain containing 3

HGNC Previous Symbol

BTBD11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001018072.2
p.R786C
c.2356C>T
Surrounding Variants
1 paper
NM_001018072.2
p.A784T
c.2350G>A
1 paper
NM_001018072.2
p.A775V
c.2324C>T
1 paper
NM_001018072.2
p.I814I
c.2442C>T
1 paper
NM_001018072.2
p.A752T
c.2254G>A
1 paper
NM_001018072.2
p.L706S
c.2117T>C
1 paper
NM_001018072.2
p.G699E
c.2096G>A
1 paper
NM_001018072.2
p.L692F
c.2074C>T
1 paper
NM_001018072.2
p.N686K
c.2058C>A
1 paper
NM_001018072.2
p.N686K
c.2058C>G
1 paper
NM_001018072.2
p.T825M
c.2474C>T
1 paper
NM_001018072.2
p.L827fs
c.2479_2480fs
1 paper
NM_001018072.2
p.L827Q
c.2480T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."