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

4 papers

NM_001365902.3

p.C332insFs

c.994_995insT

Surrounding Variants

1 paper

NM_001365902.3

p.C332insFs

c.995_996insT

1 paper

NM_001271043.2

p.S341delFs

c.1021delA

1 paper

NM_001365902.3

p.D330fs

c.988_989fs

1 paper

NM_001365902.3

p.D330fs

c.988_989fs

2 papers

NM_001365902.3

p.D330_S333delFs

c.990_997del8

1 paper

NM_001271043.2

p.L337_D338delFs

c.1011_1012delGG

6 papers

NM_001365902.3

p.S336_Q338delFs

c.1008_1012del5

1 paper

NM_001271043.2

p.K336_D338delFs

c.1008_1012del5

4 papers

NM_001365902.3

p.S337_Q338delFs

c.1011_1012delTC

1 paper

NM_001365902.3

p.G327R

c.979G>A

1 paper

NM_001365902.3

p.G327R

c.979G>C

5 papers

NM_001365902.3

p.Q338*

c.1012C>T