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

1–12 of 295 variants

12 papers

NM_002040.4

p.E11K

c.31G>A

6 papers

NM_002040.4

p.I27N

c.80T>A

5 papers

NM_002040.4

p.R248Q

c.743G>A

4 papers

NM_002040.4

p.E29Q

c.85G>C

4 papers

NM_002040.4

p.Q84*

c.250C>T

4 papers

NM_002040.4

p.E161K

c.481G>A

3 papers

NM_002040.4

p.Q30*

c.88C>T

3 papers

NM_002040.4

p.E78K

c.232G>A

3 papers

NM_002040.4

p.V122L

c.364G>C

3 papers

NM_002040.4

p.S206I

c.617G>T

3 papers

NM_002040.4

p.K389R

c.1166A>G

2 papers

NM_002040.4

p.R4R

c.12A>G