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

2 papers

NM_001190737.2

p.R116G

c.346A>G

Surrounding Variants

1 paper

NM_001190737.2

p.R116S

c.348G>C

2 papers

NM_001190737.2

p.K114T

c.341A>C

1 paper

NM_001190737.2

p.D119H

c.355G>C

1 paper

NM_001190737.2

p.K112fs

c.334_335fs

1 paper

NM_001190737.2

p.K112_L121delFs

c.336_361del26

1 paper

NM_001190737.2

p.R122fs

c.364_365fs

1 paper

NM_001190737.2

p.A124T

c.370G>A

1 paper

NM_001190738.2

p.L132S

c.395T>C

5 papers

NM_001190737.2

p.K126E

c.376A>G

1 paper

NM_001190737.2

p.V127I

c.379G>A

1 paper

NM_001190737.2

p.H101_C103delFs

c.303_309del7

11 papers

NM_001190737.2

p.W128*

c.384G>A