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

3 papers

NM_001365902.3

p.Q9_D10Splc

c.28-1G>A

Surrounding Variants

1 paper

NM_001365902.3

p.D10insFs

c.29_30ins10

1 paper

NM_001365902.3

p.D10fs

c.28_29fs

3 papers

NM_001365902.3

p.E11insFs

c.32dupA

1 paper

NM_001271043.2

p.F20S

c.59T>C

1 paper

NM_001365902.3

p.H13_P14ins4

c.37_41ins12

3 papers

NM_001365902.3

p.Q9_D10Splc

c.28-12T>A

1 paper

NM_001365985.2

p.C5insFs

c.13_14ins4

3 papers

NM_001365902.3

p.Q9_D10Splc

c.28-13T>A

2 papers

NM_001271043.2

p.F23_E25insFs

c.67_73dup7

NM_001365902.3

p.F15_E17insFs

c.43_49dup7

1 paper

NM_001365985.2

p.P13_F14ins4

c.37_41ins12

1 paper

NM_001365902.3

p.P14fs

c.40_41fs

1 paper

NM_001271043.2

p.C17_D18Splc

c.52-16G>A