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.R388K

c.1163G>A

Surrounding Variants

1 paper

NM_001190737.2

p.R388I

c.1163G>T

1 paper

NM_001190737.2

p.P390fs

c.1168_1169fs

1 paper

NM_001190737.2

p.P390_P391delFs

c.1170_1171delGA

1 paper

NM_001190737.2

p.P390_P391del2

c.1168_1172del6

1 paper

NM_001190737.2

p.H384Y

c.1150C>T

1 paper

NM_001190737.2

p.S379P

c.1135T>C

1 paper

NM_001190737.2

p.A377A

c.1131C>T

1 paper

NM_001190737.2

p.L374fs

c.1120_1121fs

1 paper

NM_001190737.2

p.A372delFs

c.1116delA

1 paper

NM_001190737.2

p.P404T

c.1210C>A

1 paper

NM_001190737.2

p.D407_P408insFs

c.1221_1222insC

1 paper

NM_001190737.2

p.P362L

c.1085C>T