Varaico: Literature-Extracted Genetic Variants

GABPA

382 papers

RefSeq Summary

This gene encodes one of three GA-binding protein transcription factor subunits which functions as a DNA-binding subunit. Since this subunit shares identity with a subunit encoding the nuclear respira...

Pfam Domains

GABP-alphaaa 36–119UCSCGA-binding protein alpha chain

SAM_PNTaa 170–251UCSCSterile alpha motif (SAM)/Pointed domain

Etsaa 319–400UCSCEts-domain

Gene Aliases

HGNC Name

GA binding protein transcription factor subunit alpha

HGNC Alias Symbols

E4TF1A; NFT2; NRF2; E4TF1-60; NRF2A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002040.4

p.A117A

c.351G>A

Surrounding Variants

1 paper

NM_002040.4

p.A117P

c.349G>C

1 paper

NM_002040.4

p.A117_A128del12

c.349_383del36

1 paper

NM_002040.4

p.V120V

c.360T>C

1 paper

NM_002040.4

p.E121_E132del12

c.361_395del36

2 papers

NM_002040.4

p.E121K

c.361G>A

1 paper

NM_002040.4

p.E121D

c.363G>C

3 papers

NM_002040.4

p.V122L

c.364G>C

1 paper

NM_002040.4

p.V123_E134del12

c.367_401del36

1 paper

NM_002040.4

p.V123L

c.367G>C

1 paper

NM_002040.4

p.I124_A135del12

c.370_404del36

1 paper

NM_002040.4

p.I124delFs

c.372delT

1 paper

NM_002040.4

p.P126_A131del6

c.376_392del18