Varaico: Literature-Extracted Genetic Variants

NFX1

68 papers

RefSeq Summary

MHC class II gene expression is controlled primarily at the transcriptional level by transcription factors that bind to the X and Y boxes, two highly conserved elements in the proximal promoter of MHC...

Pfam Domains

zf-NF-X1aa 453–470UCSCNF-X1 type zinc finger

zf-NF-X1aa 506–524UCSCNF-X1 type zinc finger

zf-NF-X1aa 567–585UCSCNF-X1 type zinc finger

zf-NF-X1aa 632–654UCSCNF-X1 type zinc finger

zf-NF-X1aa 694–705UCSCNF-X1 type zinc finger

zf-NF-X1aa 721–739UCSCNF-X1 type zinc finger

Gene Aliases

HGNC Name

nuclear transcription factor, X-box binding 1

HGNC Alias Symbols

NFX2; MGC20369; Tex42; TEG-42

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002504.6

p.K170insFs

c.510dupA

Surrounding Variants

1 paper

NM_002504.6

p.K170insFs

c.509_510dupAA

1 paper

NM_002504.6

p.K167N

c.501A>C

1 paper

NM_002504.6

p.K170fs

c.508_509fs

1 paper

NM_002504.6

p.V159L

c.475G>T

1 paper

NM_002504.6

p.L134F

c.402A>C

1 paper

NM_002504.6

p.L134F

c.402A>T

1 paper

NM_002504.6

p.P96S

c.286C>T

1 paper

NM_002504.6

p.P80fs

c.238_239fs

1 paper

NM_002504.6

p.Q59H

c.177G>C

1 paper

NM_002504.6

p.Q59H

c.177G>T

1 paper

NM_002504.6

p.R58S

c.174G>C

1 paper

NM_002504.6

p.R58S

c.174G>T