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

9 papers

NM_001365902.3

p.R121P

c.362G>C

Surrounding Variants

3 papers

NM_001365902.3

p.R121C

c.361C>T

1 paper

NM_001365902.3

p.L120delFs

c.358delC

1 paper

NM_001365902.3

p.D124N

c.370G>A

2 papers

NM_001365902.3

p.D124Fs

c.370_372delinsAFs

1 paper

NM_001365902.3

p.D118H

c.352G>C

2 papers

NM_001365902.3

p.K125Q

c.373A>C

6 papers

NM_001365902.3

p.K125E

c.373A>G

1 paper

NM_001271043.2

p.I125V

c.373A>G

1 paper

NM_001365902.3

p.K125N

c.375G>C

2 papers

NM_001365902.3

p.K125N

c.375G>T

1 paper

NM_001365902.3

p.R116R

c.348G>C

5 papers

NM_001365902.3

p.R116Q

c.347G>A