Varaico: Literature-Extracted Genetic Variants

ABTB1

44 papers

RefSeq Summary

This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phospha...

Pfam Domains

Ank_2aa 3–66UCSCAnkyrin repeats (3 copies)

BTBaa 105–212UCSCBTB/POZ domain

BTBaa 267–376UCSCBTB/POZ domain

Gene Aliases

HGNC Name

ankyrin repeat and BTB domain containing 1

HGNC Alias Symbols

BPOZ; EF1ABP; Btb3; BTBD21; BPOZ-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_172027.3

p.P265A

c.793C>G

Surrounding Variants

1 paper

NM_032548.4

p.L118R

c.353T>G

1 paper

NM_172027.3

p.C275F

c.824G>T

2 papers

NM_172027.3

p.H286L

c.857A>T

1 paper

NM_172027.3

p.K287R

c.860A>G

1 paper

NM_172027.3

p.A288insFs

c.864dupC

1 paper

NM_172027.3

p.F290insFs

c.869dupT

1 paper

NM_172027.3

p.F290V

c.868T>G

1 paper

NM_172027.3

p.G292delFs

c.875delG

1 paper

NM_172027.3

p.F297L

c.889T>C

1 paper

NM_172027.3

p.F297V

c.889T>G

1 paper

NM_172027.3

p.F297L

c.891C>A

1 paper

NM_172027.3

p.F297L

c.891C>G