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

1 paper

NM_001365902.3

p.L105_S106ins1

c.315_316insGGT

Surrounding Variants

2 papers

NM_001365902.3

p.S106F

c.317C>T

1 paper

NM_001365902.3

p.N107Fs

c.319_321delinsGAFs

1 paper

NM_001271043.2

p.P116A

c.346C>G

2 papers

NM_001365902.3

p.P108Fs

c.322_323delinsAFs

1 paper

NM_001365902.3

p.C103Y

c.308G>A

2 papers

NM_001365902.3

p.D109Y

c.325G>T

2 papers

NM_001365902.3

p.C102fs

c.304_305fs

1 paper

NM_001365902.3

p.Q110*

c.328C>T

1 paper

NM_001271043.2

p.P108Fs

c.322_323delinsAFs

1 paper

NM_001365902.3

p.P100_V104delFs

c.299_312del14

3 papers

NM_001365902.3

p.P101insFs

c.303dupC

2 papers

NM_001365902.3

p.K98K

c.294G>A