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

5 papers

NM_001365902.3

p.R116P

c.347G>C

Surrounding Variants

5 papers

NM_001365902.3

p.R116Q

c.347G>A

3 papers

NM_001365902.3

p.R116G

c.346C>G

5 papers

NM_001365902.3

p.R116W

c.346C>T

1 paper

NM_001365902.3

p.R116R

c.348G>C

1 paper

NM_001271043.2

p.I125V

c.373A>G

2 papers

NM_001365902.3

p.R115Q

c.344G>A

NM_001271043.2

p.R123Q

c.368G>A

5 papers

NM_001271043.2

p.R123W

c.367C>T

NM_001365902.3

p.R115W

c.343C>T

1 paper

NM_001365902.3

p.D118H

c.352G>C

1 paper

NM_001365902.3

p.K113T

c.338A>C

1 paper

NM_001365902.3

p.L120delFs

c.358delC

4 papers

NM_001365902.3

p.K113E

c.337A>G

NM_001271043.2

p.K121E

c.361A>G

3 papers

NM_001365902.3

p.R121C

c.361C>T