Varaico: Literature-Extracted Genetic Variants

Gene:NFIX
Variant:p.E148delFs

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.E148delFs
c.442delG
Surrounding Variants
1 paper
NM_001365902.3
p.G147E
c.440G>A
1 paper
NM_001271043.2
p.D154_G155insT
c.460_464ins3
1 paper
NM_001365902.3
p.D146_S153delFs
c.436_458del23
1 paper
NM_001365902.3
p.E148D
c.444G>C
1 paper
NM_001365902.3
p.E148D
c.444G>T
1 paper
NM_001365902.3
p.L150fs
c.448_449fs
1 paper
NM_001271043.2
p.Y159_P162delFs
c.476_486del11
1 paper
NM_001271043.2
p.Y159fs
c.475_476fs
1 paper
NM_001271043.2
p.I148fs
c.442_443fs
1 paper
NM_001271043.2
p.I148delFs
c.442delA
2 papers
NM_001365902.3
p.P154_Q155insT
c.460_464ins3
1 paper
NM_001271043.2
p.G147E
c.440G>A
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