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.L225P

c.674T>C

Surrounding Variants

1 paper

NM_002040.4

p.E228E

c.684A>G

1 paper

NM_002040.4

p.E221*

c.661G>T

1 paper

NM_002040.4

p.Q232_R233insFs

c.696_697insT

1 paper

NM_002040.4

p.R233W

c.697C>T

1 paper

NM_002040.4

p.R233Q

c.698G>A

1 paper

NM_002040.4

p.N216I

c.647A>T

1 paper

NM_002040.4

p.G237delFs

c.711delA

1 paper

NM_002040.4

p.T213S

c.637A>T

1 paper

NM_002040.4

p.T213insFs

c.637dupA

1 paper

NM_002040.4

p.L212fs

c.634_635fs

2 papers

NM_002040.4

p.I239F

c.715A>T

1 paper

NM_002040.4

p.D211G

c.632A>G