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.R58S

c.174G>C

Surrounding Variants

1 paper

NM_002504.6

p.R58S

c.174G>T

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.P52R

c.155C>G

1 paper

NM_002504.6

p.S50L

c.149C>T

1 paper

NM_002504.6

p.S49N

c.146G>A

2 papers

NM_002504.6

p.Y48C

c.143A>G

1 paper

NM_002504.6

p.R45T

c.134G>C

1 paper

NM_002504.6

p.R42R

c.126G>A

1 paper

NM_002504.6

p.D39N

c.115G>A

1 paper

NM_002504.6

p.P80fs

c.238_239fs

1 paper

NM_002504.6

p.R37T

c.110G>C