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_001271043.2

p.D90insFs

c.269dupA

Surrounding Variants

1 paper

NM_001271043.2

p.D90fs

c.268_269fs

2 papers

NM_001271043.2

p.D90_F99del10

c.268_296del30

1 paper

NM_001365902.3

p.I83T

c.248T>C

1 paper

NM_001365902.3

p.I83S

c.248T>G

1 paper

NM_001365902.3

p.R80L

c.239G>T

1 paper

NM_001271043.2

p.R92delFs

c.276delG

1 paper

NM_001365902.3

p.L79P

c.236T>C

1 paper

NM_001271043.2

p.E94*

c.280G>T

2 papers

NM_001365902.3

p.L75P

c.224T>C

1 paper

NM_001271043.2

p.L83R

c.248T>G

2 papers

NM_001271043.2

p.E97insFs

c.290_291insA

2 papers

NM_001365902.3

p.D90_K99del10

c.268_296del30