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

1–12 of 76 variants

4 papers

NM_002504.6

p.L840P

c.2519T>C

2 papers

NM_002504.6

p.Y48C

c.143A>G

2 papers

NM_002504.6

p.K170insFs

c.510dupA

2 papers

NM_002504.6

p.C466S

c.1396T>A

2 papers

NM_002504.6

p.C466S

c.1397G>C

2 papers

NM_002504.6

p.V575M

c.1723G>A

2 papers

NM_002504.6

p.R1032Q

c.3095G>A

2 papers

NM_002504.6

p.D1117V

c.3350A>T

1 paper

NM_002504.6

p.E3K

c.7G>A

1 paper

NM_002504.6

p.D16N

c.46G>A

1 paper

NM_002504.6

p.R37T

c.110G>C

1 paper

NM_002504.6

p.D39N

c.115G>A