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

2 papers

NM_001365902.3

p.E52insFs

c.154_155insT

Surrounding Variants

1 paper

NM_001365902.3

p.E52fs

c.154_155fs

1 paper

NM_001365902.3

p.K50*

c.148A>T

1 paper

NM_001365902.3

p.R54R

c.160C>A

2 papers

NM_001365902.3

p.R54P

c.161G>C

NM_001271043.2

p.R62P

c.185G>C

3 papers

NM_001365902.3

p.E53_E59del0

c.157_177del21

1 paper

NM_001365902.3

p.A55fs

c.163_164fs

1 paper

NM_001271043.2

p.A63S

c.187G>T

1 paper

NM_001365902.3

p.A55delFs

c.164delC

1 paper

NM_001365902.3

p.A55fs

c.163_164fs

1 paper

NM_001365902.3

p.A55G

c.164C>G

5 papers

NM_001365902.3

p.M48K

c.143T>A

NM_001271043.2

p.M56K

c.167T>A

1 paper

NM_001365902.3

p.M48fs

c.142_143fs