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.Q40_P47delins

c.120_140delinsAAC

Surrounding Variants

1 paper

NM_002040.4

p.A41_I44del0

c.121_132del12

1 paper

NM_002040.4

p.A41_I48del0

c.121_144del24

1 paper

NM_002040.4

p.Q40L

c.119A>T

2 papers

NM_002040.4

p.A41P

c.121G>C

2 papers

NM_002040.4

p.A41S

c.121G>T

1 paper

NM_002040.4

p.A41_D43delins

c.121_129delinsTTG

1 paper

NM_002040.4

p.A41_N50del0

c.122_148del27

1 paper

NM_002040.4

p.Q40_G49del0

c.119_145del27

1 paper

NM_002040.4

p.Q40_N50del0

c.119_148del30

1 paper

NM_002040.4

p.I42_I44del0

c.126_131del6

1 paper

NM_002040.4

p.A41_N45del0

c.123_134del12

1 paper

NM_002040.4

p.I42_G49del0

c.124_147del24