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.L61P

c.182T>C

Surrounding Variants

1 paper

NM_001365902.3

p.G62A

c.185G>C

6 papers

NM_001365902.3

p.L60P

c.179T>C

1 paper

NM_001365902.3

p.E59_L60insFs

c.177_178ins5

1 paper

NM_001365902.3

p.E63*

c.187G>T

1 paper

NM_001365902.3

p.E59insFs

c.175_176insTC

4 papers

NM_001365902.3

p.K64delFs

c.191delA

2 papers

NM_001365902.3

p.K64fs

c.190_191fs

1 paper

NM_001271043.2

p.E67insFs

c.200_201dupAG

2 papers

NM_001365902.3

p.E59del1

c.175_176delGAG

1 paper

NM_001365902.3

p.E66insFs

c.196_197insTC

2 papers

NM_001365902.3

p.E66insFs

c.198dupG

1 paper

NM_001365902.3

p.E66A

c.197A>C