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.K52R

c.155A>G

Surrounding Variants

1 paper

NM_002040.4

p.K53R

c.158A>G

1 paper

NM_002040.4

p.L51*

c.152T>A

1 paper

NM_002040.4

p.L51*

c.152T>G

2 papers

NM_002040.4

p.K53N

c.159A>T

2 papers

NM_002040.4

p.L54L

c.162G>A

1 paper

NM_002040.4

p.L55I

c.163C>A

1 paper

NM_002040.4

p.G49D

c.146G>A

1 paper

NM_002040.4

p.G49S

c.145G>A

1 paper

NM_002040.4

p.G49_L54del0

c.145_162del18

1 paper

NM_002040.4

p.E56K

c.166G>A

1 paper

NM_002040.4

p.E56_S62del0

c.168_185del18

1 paper

NM_002040.4

p.I48K

c.143T>A