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.E105D

c.315A>T

Surrounding Variants

1 paper

NM_002040.4

p.I104I

c.312T>A

1 paper

NM_002040.4

p.E105_K107del3

c.313_320del9

1 paper

NM_002040.4

p.I104ins2

c.310_311ins6

1 paper

NM_002040.4

p.L108_N109ins12

c.322_326ins36

1 paper

NM_002040.4

p.N109Y

c.325A>T

1 paper

NM_002040.4

p.I110_D118del9

c.328_353del27

1 paper

NM_002040.4

p.A117_A128del12

c.349_383del36

1 paper

NM_002040.4

p.A117P

c.349G>C

1 paper

NM_002040.4

p.A117A

c.351G>A

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