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.L20P

c.59T>C

Surrounding Variants

2 papers

NM_001271043.2

p.H30_A33delFs

c.90_99del10

1 paper

NM_001271043.2

p.V31A

c.92T>C

1 paper

NM_001365902.3

p.E17*

c.49G>T

1 paper

NM_001365902.3

p.E17fs

c.49_50fs

1 paper

NM_001271043.2

p.A33delFs

c.97delG

1 paper

NM_001365902.3

p.I16_A18del3

c.46_53del9

1 paper

NM_001271043.2

p.A33fs

c.97_98fs

1 paper

NM_001365902.3

p.A25_F26insFs

c.75_76insA

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_001365902.3

p.H13_P14ins4

c.37_41ins12