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.D43A

c.128A>C

Surrounding Variants

1 paper

NM_002040.4

p.D43_I48del0

c.129_143del15

1 paper

NM_002040.4

p.D43_G49del0

c.129_146del18

1 paper

NM_002040.4

p.I44delins

c.130_131delinsAT

1 paper

NM_002040.4

p.I44delins

c.130_131delinsTT

1 paper

NM_002040.4

p.I44_P47del0

c.131_139del9

1 paper

NM_002040.4

p.I44delins

c.130_131delinsAA

1 paper

NM_002040.4

p.I42_N45del0

c.126_134del9

1 paper

NM_002040.4

p.I42_E46del0

c.126_137del12

1 paper

NM_002040.4

p.I42_P47del0

c.126_140del15

1 paper

NM_002040.4

p.N45_G49del0

c.133_147del15

1 paper

NM_002040.4

p.I42V

c.124A>G

1 paper

NM_002040.4

p.I42L

c.124A>T