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.A141P

c.421G>C

Surrounding Variants

1 paper

NM_002040.4

p.A141S

c.421G>T

1 paper

NM_002040.4

p.A141_Q142insFs

c.423_424insA

1 paper

NM_002040.4

p.Q142delFs

c.425delA

1 paper

NM_002040.4

p.E139K

c.415G>A

1 paper

NM_002040.4

p.L137L

c.411T>G

1 paper

NM_002040.4

p.T145T

c.435T>A

1 paper

NM_002040.4

p.L146R

c.437T>G

1 paper

NM_002040.4

p.A135V

c.404C>T

1 paper

NM_002040.4

p.A135delFs

c.403_404delGC

1 paper

NM_002040.4

p.G148R

c.442G>C

1 paper

NM_002040.4

p.E134_T145del12

c.400_434del36

1 paper

NM_002040.4

p.S133_D147del15

c.397_440del45