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 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

Selected Variant

1 paper

NM_001190737.2

p.K153E

c.457A>G

Surrounding Variants

1 paper

NM_001190737.2

p.S154F

c.461C>T

1 paper

NM_001190737.2

p.K139_D147del9

c.415_440del27

1 paper

NM_001190737.2

p.K139_D147delFs

c.415_440del26

1 paper

NM_001190737.2

p.F138_D147delFs

c.414_439del26

1 paper

NM_001190737.2

p.L162I

c.484C>A

2 papers

NM_001190737.2

p.L162H

c.485T>A

1 paper

NM_001190737.2

p.V164A

c.491T>C

1 paper

NM_001190737.2

p.L137Q

c.410T>A

2 papers

NM_001190737.2

p.L132P

c.395T>C

1 paper

NM_001190737.2

p.L132L

c.394C>T

1 paper

NM_001190737.2

p.D131A

c.392A>C

1 paper

NM_001190737.2

p.L130_D131delFs

c.390_391delCC