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

1–12 of 355 variants

11 papers

NM_001365902.3

p.R128R

c.384G>A

10 papers

NM_001365902.3

p.A246E

c.737C>A

9 papers

NM_001365902.3

p.R121P

c.362G>C

8 papers

NM_001365902.3

p.G319Splc

c.955+1G>T

6 papers

NM_001365902.3

p.L60P

c.179T>C

6 papers

NM_001365902.3

p.K125E

c.373A>G

6 papers

NM_001365902.3

p.S336_Q338delFs

c.1008_1012del5

6 papers

NM_001365902.3

p.F346insFs

c.1037_1038insT

5 papers

NM_001365902.3

p.R116W

c.346C>T

5 papers

NM_001365902.3

p.R116Q

c.347G>A

5 papers

NM_001365902.3

p.R116P

c.347G>C

5 papers

NM_001365902.3

p.G319Splc

c.955+1G>A