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.D64V

c.191A>T

Surrounding Variants

1 paper

NM_002040.4

p.A65S

c.193G>T

1 paper

NM_002040.4

p.H66L

c.197A>T

1 paper

NM_002040.4

p.I68F

c.202A>T

1 paper

NM_002040.4

p.Q60fs

c.178_179fs

1 paper

NM_002040.4

p.L59L

c.177A>G

1 paper

NM_002040.4

p.L59V

c.175C>G

1 paper

NM_002040.4

p.R58S

c.174A>T

1 paper

NM_002040.4

p.R58K

c.173G>A

1 paper

NM_002040.4

p.P57P

c.171A>T

1 paper

NM_002040.4

p.Q71*

c.211C>T

1 paper

NM_002040.4

p.E56E

c.168A>G

2 papers

NM_002040.4

p.D72N

c.214G>A