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

2 papers

NM_002040.4

p.R4R

c.12A>G

Surrounding Variants

1 paper

NM_002040.4

p.R4S

c.12A>C

1 paper

NM_002040.4

p.R4S

c.12A>T

1 paper

NM_002040.4

p.E5Q

c.13G>C

1 paper

NM_002040.4

p.K3Q

c.7A>C

1 paper

NM_002040.4

p.A6A

c.18A>G

1 paper

NM_002040.4

p.A6A

c.18A>T

1 paper

NM_002040.4

p.E7K

c.19G>A

1 paper

NM_002040.4

p.T2A

c.4A>G

1 paper

NM_002040.4

p.E7G

c.20A>G

2 papers

NM_002040.4

p.E7V

c.20A>T

1 paper

NM_002040.4

p.M1I

c.3G>A

1 paper

NM_002040.4

p.M1K

c.2T>A