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.A246T

c.736G>A

Surrounding Variants

10 papers

NM_001365902.3

p.A246E

c.737C>A

1 paper

NM_001365902.3

p.L248delFs

c.743_744delTG

1 paper

NM_001365902.3

p.E249*

c.745G>T

1 paper

NM_001271043.2

p.P249fs

c.745_746fs

1 paper

NM_001271043.2

p.P249_E257Fs

c.745_771delinsATGATGTFs

1 paper

NM_001365902.3

p.S239*

c.716C>A

1 paper

NM_001365902.3

p.S239*

c.716C>G

1 paper

NM_001365902.3

p.A238T

c.712G>A

1 paper

NM_001365902.3

p.Y254H

c.760T>C

1 paper

NM_001365902.3

p.N255S

c.764A>G

1 paper

NM_001365902.3

p.T260S

c.778A>T

2 papers

NM_001365902.3

p.T260S

c.779C>G