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.M48delFs

c.142delA

Surrounding Variants

1 paper

NM_001365902.3

p.M48fs

c.142_143fs

5 papers

NM_001365902.3

p.M48K

c.143T>A

NM_001271043.2

p.M56K

c.167T>A

3 papers

NM_001365902.3

p.E53_E59del0

c.157_177del21

1 paper

NM_001365902.3

p.K50*

c.148A>T

1 paper

NM_001271043.2

p.E53_D59del0

c.157_177del21

1 paper

NM_001271043.2

p.H52insFs

c.154_155insT

2 papers

NM_001365902.3

p.E52insFs

c.154_155insT

1 paper

NM_001365902.3

p.E52fs

c.154_155fs

1 paper

NM_001365902.3

p.K42M

c.125A>T

1 paper

NM_001365902.3

p.F41F

c.123C>T

1 paper

NM_001365902.3

p.R54R

c.160C>A

1 paper

NM_001365902.3

p.F41Y

c.122T>A