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.T31_Y32del1

c.93_95delCTA

Surrounding Variants

1 paper

NM_002040.4

p.Y32delFs

c.96delC

1 paper

NM_002040.4

p.A33_E36ins1

c.97_108dup12

3 papers

NM_002040.4

p.Q30*

c.88C>T

2 papers

NM_002040.4

p.E29G

c.86A>G

1 paper

NM_002040.4

p.E29K

c.85G>A

1 paper

NM_002040.4

p.A33A

c.99G>A

4 papers

NM_002040.4

p.E29Q

c.85G>C

1 paper

NM_002040.4

p.E29*

c.85G>T

1 paper

NM_002040.4

p.P34_S39del0

c.100_117del18

1 paper

NM_002040.4

p.P34_P47del0

c.102_140del39

1 paper

NM_002040.4

p.P34_V38del0

c.101_112del12

1 paper

NM_002040.4

p.P34_D43del0

c.102_128del27