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.W38L

c.113G>T

Surrounding Variants

1 paper

NM_001365902.3

p.W30*

c.89G>A

1 paper

NM_001365902.3

p.W30S

c.89G>C

1 paper

NM_001365902.3

p.W30C

c.90G>C

1 paper

NM_001365902.3

p.W30C

c.90G>T

1 paper

NM_001365902.3

p.W30fs

c.88_89fs

1 paper

NM_001365902.3

p.W30fs

c.88_89fs

1 paper

NM_001365902.3

p.F31S

c.92T>C

1 paper

NM_001365902.3

p.T29_W30ins10

c.85_89ins30

2 papers

NM_001365902.3

p.N32delFs

c.95delA

2 papers

NM_001365902.3

p.W30_L33delFs

c.90_99del10

1 paper

NM_001365902.3

p.Y28F

c.83A>T

1 paper

NM_001365902.3

p.A25_F26insFs

c.75_76insA