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.D1117V

c.3350A>T

Surrounding Variants

1 paper

NM_002504.6

p.K1097Splc

c.3290+9C>T

1 paper

NM_002504.6

p.P1087Q

c.3260C>A

1 paper

NM_002504.6

p.P1087L

c.3260C>T

1 paper

NM_002504.6

p.P1086Q

c.3257C>A

1 paper

NM_002504.6

p.R1083Q

c.3248G>A

1 paper

NM_002504.6

p.T1073K

c.3218C>A

1 paper

NM_002504.6

p.K1064K

c.3192G>A

2 papers

NM_002504.6

p.R1032Q

c.3095G>A

1 paper

NM_002504.6

p.N1027D

c.3079A>G

1 paper

NM_002504.6

p.M1026V

c.3076A>G

1 paper

NM_002504.6

p.P1025L

c.3074C>T

1 paper

NM_002504.6

p.N1012N

c.3036T>C