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.A55delFs

c.164delC

Surrounding Variants

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.A55fs

c.163_164fs

1 paper

NM_001365902.3

p.A55G

c.164C>G

2 papers

NM_001365902.3

p.R54P

c.161G>C

NM_001271043.2

p.R62P

c.185G>C

1 paper

NM_001365902.3

p.R54R

c.160C>A

1 paper

NM_001271043.2

p.V64delFs

c.191delT

1 paper

NM_001365902.3

p.V56E

c.167T>A

2 papers

NM_001365902.3

p.E52insFs

c.154_155insT

1 paper

NM_001365902.3

p.E52fs

c.154_155fs

1 paper

NM_001271043.2

p.E67insFs

c.200_201dupAG

2 papers

NM_001365902.3

p.E59del1

c.175_176delGAG