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

3 papers

NM_002040.4

p.E78K

c.232G>A

Surrounding Variants

1 paper

NM_002040.4

p.E78del1

c.232_233delGAA

1 paper

NM_002040.4

p.P77S

c.229C>T

1 paper

NM_002040.4

p.D76V

c.227A>T

1 paper

NM_002040.4

p.S80R

c.238A>C

1 paper

NM_002040.4

p.S80G

c.238A>G

1 paper

NM_002040.4

p.F82Y

c.245T>A

4 papers

NM_002040.4

p.Q84*

c.250C>T

1 paper

NM_002040.4

p.Q84L

c.251A>T

1 paper

NM_002040.4

p.G85R

c.253G>A

1 paper

NM_002040.4

p.G85R

c.253G>C

1 paper

NM_002040.4

p.K87T

c.260A>C

1 paper

NM_002040.4

p.D89Y

c.265G>T