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

12 papers

NM_002040.4

p.E11K

c.31G>A

Surrounding Variants

1 paper

NM_002040.4

p.I10L

c.28A>T

2 papers

NM_002040.4

p.E8A

c.23A>C

2 papers

NM_002040.4

p.E8G

c.23A>G

1 paper

NM_002040.4

p.E8V

c.23A>T

1 paper

NM_002040.4

p.E13E

c.39G>A

1 paper

NM_002040.4

p.I14L

c.40A>C

2 papers

NM_002040.4

p.I14V

c.40A>G

1 paper

NM_002040.4

p.I14F

c.40A>T

1 paper

NM_002040.4

p.I14N

c.41T>A

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.E7K

c.19G>A