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.Q391P

c.1172A>C

Surrounding Variants

3 papers

NM_002040.4

p.K389R

c.1166A>G

1 paper

NM_002040.4

p.M386I

c.1158G>A

1 paper

NM_002040.4

p.Y382H

c.1144T>C

1 paper

NM_002040.4

p.L403_K404del2

c.1207_1211del6

1 paper

NM_002040.4

p.L403_K404del1

c.1208_1210delTGA

1 paper

NM_002040.4

p.L406insFs

c.1218dupT

1 paper

NM_002040.4

p.L406F

c.1216C>T

1 paper

NM_002040.4

p.Y409*

c.1227C>A

1 paper

NM_002040.4

p.Y409*

c.1227C>G

1 paper

NM_002040.4

p.N415Fs

c.1243_1245delinsTFs

1 paper

NM_002040.4

p.V418L

c.1252G>C

1 paper

NM_002040.4

p.Q423H

c.1269G>T