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.G316A

c.947G>C

Surrounding Variants

1 paper

NM_172027.3

p.R306insFs

c.917_918insC

6 papers

NM_172027.3

p.R306*

c.916C>T

1 paper

NM_172027.3

p.T331A

c.991A>G

1 paper

NM_172027.3

p.R298*

c.892C>T

1 paper

NM_172027.3

p.F297L

c.891C>A

1 paper

NM_172027.3

p.F297L

c.891C>G

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.G292delFs

c.875delG

1 paper

NM_172027.3

p.F290V

c.868T>G

1 paper

NM_172027.3

p.F290insFs

c.869dupT

1 paper

NM_172027.3

p.A288insFs

c.864dupC