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

1–12 of 64 variants

6 papers

NM_172027.3

p.R306*

c.916C>T

2 papers

NM_172027.3

p.H286L

c.857A>T

2 papers

NM_172027.3

p.R386H

c.1157G>A

1 paper

NM_172027.3

p.M1R

c.2T>G

1 paper

NM_172027.3

p.D2G

c.5A>G

1 paper

NM_172027.3

p.V29E

c.86T>A

1 paper

NM_172027.3

p.A43T

c.127G>A

1 paper

NM_172027.3

p.R82H

c.245G>A

1 paper

NM_172027.3

p.S94F

c.281C>T

1 paper

NM_172027.3

p.Y100N

c.298T>A

1 paper

NM_172027.3

p.Y100C

c.299A>G

1 paper

NM_172027.3

p.R107Q

c.320G>A