Varaico: Literature-Extracted Genetic Variants

NFIX

349 papers

RefSeq Summary

The protein encoded by this gene is a transcription factor that binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3 in viral and cellular promoters. The encoded protein can also stimulate adenovirus r...

Pfam Domains

NfI_DNAbd_pre-Naa 6–46UCSCNuclear factor I protein pre-N-terminus

NfI_DNAbd_pre-Naa 14–54UCSCNuclear factor I protein pre-N-terminus

MH1aa 68–172UCSCMH1 domain

CTF_NFIaa 213–495UCSCCTF/NF-I family transcription modulation region

Gene Aliases

HGNC Name

nuclear factor I X

HGNC Alias Symbol

NF1A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001271043.2

p.P350insFs

c.1048_1049insC

Surrounding Variants

2 papers

NM_001365902.3

p.S341delFs

c.1021delT

1 paper

NM_001365902.3

p.P342L

c.1025C>T

2 papers

NM_001271043.2

p.Q346insFs

c.1037_1038insT

1 paper

NM_001271043.2

p.M352_T355delFs

c.1055_1064del10

5 papers

NM_001365902.3

p.Q338*

c.1012C>T

1 paper

NM_001365902.3

p.M344T

c.1031T>C

6 papers

NM_001365902.3

p.F346insFs

c.1037_1038insT

4 papers

NM_001365902.3

p.S337_Q338delFs

c.1011_1012delTC

1 paper

NM_001365902.3

p.F346_T347insFs

c.1038_1039insT

6 papers

NM_001365902.3

p.S336_Q338delFs

c.1008_1012del5

1 paper

NM_001271044.3

p.H341delFs

c.1021delC

1 paper

NM_001271044.3

p.H341fs

c.1021_1022fs