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.R107Q

c.320G>A

Surrounding Variants

1 paper

NM_172027.3

p.R107L

c.320G>T

1 paper

NM_172027.3

p.Y100C

c.299A>G

1 paper

NM_172027.3

p.Y100N

c.298T>A

1 paper

NM_172027.3

p.S94F

c.281C>T

1 paper

NM_172027.3

p.R82H

c.245G>A

1 paper

NM_172027.3

p.R107Splc

c.321-2A>T

1 paper

NM_172027.3

p.G112D

c.335G>A

1 paper

NM_172027.3

p.R127Q

c.380G>A

1 paper

NM_172027.3

p.H129L

c.386A>T

1 paper

NM_172027.3

p.V132I

c.394G>A

1 paper

NM_172027.3

p.S137T

c.410G>C

1 paper

NM_172027.3

p.M143R

c.428T>G