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

4 papers

NM_002040.4

p.E161K

c.481G>A

Surrounding Variants

1 paper

NM_002040.4

p.Q162R

c.485A>G

1 paper

NM_002040.4

p.T159T

c.477T>A

1 paper

NM_002040.4

p.E158K

c.472G>A

1 paper

NM_002040.4

p.E158delFs

c.474delA

1 paper

NM_002040.4

p.D157N

c.469G>A

1 paper

NM_002040.4

p.S156A

c.466T>G

1 paper

NM_002040.4

p.A168D

c.503C>A

1 paper

NM_002040.4

p.T153I

c.458C>T

1 paper

NM_002040.4

p.E171Q

c.511G>C

1 paper

NM_002040.4

p.G172D

c.515G>A

1 paper

NM_002040.4

p.G148R

c.442G>C

1 paper

NM_002040.4

p.L146R

c.437T>G