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.L439P

c.1316T>C

Surrounding Variants

1 paper

NM_172027.3

p.L439R

c.1316T>G

1 paper

NM_172027.3

p.P438L

c.1313C>T

1 paper

NM_172027.3

p.F417C

c.1250T>G

1 paper

NM_172027.3

p.V472M

c.1414G>A

1 paper

NM_172027.3

p.T401A

c.1201A>G

1 paper

NM_172027.3

p.F391L

c.1173C>A

1 paper

NM_172027.3

p.F391L

c.1173C>G

1 paper

NM_172027.3

p.F391L

c.1171T>C

1 paper

NM_172027.3

p.V387M

c.1159G>A

2 papers

NM_172027.3

p.R386H

c.1157G>A

1 paper

NM_172027.3

p.S371delFs

c.1111delA

1 paper

NM_172027.3

p.T331A

c.991A>G