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

1 paper

NM_002504.6

p.L945R

c.2834T>G

Surrounding Variants

1 paper

NM_002504.6

p.R944K

c.2831G>A

1 paper

NM_002504.6

p.G927A

c.2780G>C

1 paper

NM_002504.6

p.D922V

c.2765A>T

1 paper

NM_002504.6

p.S906N

c.2717G>A

1 paper

NM_002504.6

p.P870P

c.2610C>T

1 paper

NM_002504.6

p.P866Q

c.2597C>A

1 paper

NM_002504.6

p.G844R

c.2530G>A

1 paper

NM_002504.6

p.G844R

c.2530G>C

4 papers

NM_002504.6

p.L840P

c.2519T>C

1 paper

NM_002504.6

p.G823R

c.2467G>A

1 paper

NM_002504.6

p.G823R

c.2467G>C

1 paper

NM_002504.6

p.Q800P

c.2399A>C