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.W312fs

c.934_935fs

Surrounding Variants

1 paper

NM_001365902.3

p.W312*

c.935G>A

1 paper

NM_001271043.2

p.W320insFs

c.959_960insC

1 paper

NM_001365902.3

p.W312*

c.936G>A

2 papers

NM_001365902.3

p.G311_D315delFs

c.933_943del11

1 paper

NM_001365902.3

p.D315_V316insGGT

c.943_947ins9

1 paper

NM_001365902.3

p.S307_Q308insFs

c.921_922ins7

1 paper

NM_001271043.2

p.S315_Q316insGGT

c.943_947ins9

5 papers

NM_001365902.3

p.G319Splc

c.955+1G>A

8 papers

NM_001365902.3

p.G319Splc

c.955+1G>T

1 paper

NM_001365902.3

p.G299_W312del14

c.895_935del42

1 paper

NM_001365902.3

p.G297E

c.890G>A

1 paper

NM_001365902.3

p.V293A

c.878T>C