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.D127V

c.380A>T

Surrounding Variants

1 paper

NM_002040.4

p.D127_V138del12

c.379_413del36

1 paper

NM_002040.4

p.P126S

c.376C>T

1 paper

NM_002040.4

p.H129_V143del15

c.385_428del45

1 paper

NM_002040.4

p.P126_E134del9

c.376_401del27

1 paper

NM_002040.4

p.P126_E140del15

c.376_419del45

1 paper

NM_002040.4

p.P126_A131del6

c.376_392del18

1 paper

NM_002040.4

p.P126_L137del12

c.376_410del36

1 paper

NM_002040.4

p.H130R

c.389A>G

1 paper

NM_002040.4

p.I124delFs

c.372delT

1 paper

NM_002040.4

p.A131_E139del9

c.391_416del27

1 paper

NM_002040.4

p.A131T

c.391G>A

1 paper

NM_002040.4

p.I124_A135del12

c.370_404del36