Varaico: Literature-Extracted Genetic Variants

NFIB

9p23-p22.3 (UCSC)OMIM PanelApp GTEx

298 papers

Pfam Domains

NfI_DNAbd_pre-Naa 1–38UCSCNuclear factor I protein pre-N-terminus

NfI_DNAbd_pre-Naa 3–43UCSCNuclear factor I protein pre-N-terminus

NfI_DNAbd_pre-Naa 7–47UCSCNuclear factor I protein pre-N-terminus

NfI_DNAbd_pre-Naa 7–47UCSCNuclear factor I protein pre-N-terminus

NfI_DNAbd_pre-Naa 34–73UCSCNuclear factor I protein pre-N-terminus

MH1aa 69–173UCSCMH1 domain

Gene Aliases

HGNC Name

nuclear factor I B

HGNC Alias Symbols

NFI-RED; NFIB2; NFIB3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 143 variants

NM_001190737.2

p.W128*

c.384G>A

NM_001190737.2

p.R89*

c.265C>T

NM_001190737.2

p.K126E

c.376A>G

NM_001190737.2

p.P66A

c.196C>G

NM_001190737.2

p.R37*

c.109C>T

NM_001190737.2

p.V422L

c.1264G>C

NM_001190737.2

p.P66S

c.196C>T

NM_001190737.2

p.Q86insFs

c.256dupC

NM_001190737.2

p.K114T

c.341A>C

NM_001190737.2

p.R116G

c.346A>G

NM_001190737.2

p.L132P

c.395T>C

NM_001190737.2

p.L162H

c.485T>A