Varaico: Literature-Extracted Genetic Variants

GABPB1

29 papers

RefSeq Summary

This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. The encoded p...

Pfam Domains

Ank_2aa 10–101UCSCAnkyrin repeats (3 copies)

Ank_2aa 65–134UCSCAnkyrin repeats (3 copies)

Ank_2aa 100–172UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

GA binding protein transcription factor subunit beta 1

HGNC Alias Symbol

E4TF1-47

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016654.5

p.K92R

c.275A>G

Surrounding Variants

1 paper

NM_016654.5

p.A84T

c.250G>A

1 paper

NM_016654.5

p.A66T

c.196G>A

1 paper

NM_016654.5

p.V62M

c.184G>A

1 paper

NM_016654.5

p.G49D

c.146G>A

2 papers

NM_016654.5

p.L42F

c.124C>T

1 paper

NM_016654.5

p.T106I

c.317C>T

1 paper

NM_016654.5

p.A107T

c.319G>A

1 paper

NM_016654.5

p.E118V

c.353A>T

1 paper

NM_016654.5

p.T139S

c.415A>T

1 paper

NM_016654.5

p.T139S

c.416C>G

1 paper

NM_016654.5

p.P31A

c.91C>G

2 papers

NM_016654.5

p.R23C

c.67C>T