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.R483R

c.1449G>A

Surrounding Variants

1 paper

NM_002504.6

p.Q510_C511insA

c.1528_1532ins3

1 paper

NM_002504.6

p.G518C

c.1552G>T

1 paper

NM_002504.6

p.C520Y

c.1559G>A

1 paper

NM_002504.6

p.A471V

c.1412C>T

1 paper

NM_002504.6

p.C469S

c.1406G>C

1 paper

NM_002504.6

p.C469S

c.1405T>A

2 papers

NM_002504.6

p.C466S

c.1397G>C

2 papers

NM_002504.6

p.C466S

c.1396T>A

1 paper

NM_002504.6

p.T536I

c.1607C>T

1 paper

NM_002504.6

p.D550N

c.1648G>A

1 paper

NM_002504.6

p.S573L

c.1718C>T

2 papers

NM_002504.6

p.V575M

c.1723G>A