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.V426V

c.1278G>T

Surrounding Variants

2 papers

NM_001190737.2

p.V422L

c.1264G>T

3 papers

NM_001190737.2

p.V422L

c.1264G>C

1 paper

NM_001190737.2

p.S419N

c.1256G>A

2 papers

NM_001190737.2

p.H439R

c.1316A>G

2 papers

NM_001190737.2

p.R444*

c.1330C>T

1 paper

NM_001190737.2

p.S449T

c.1346G>C

1 paper

NM_001190737.2

p.S469C

c.1406C>G

1 paper

NM_001190737.2

p.R480I

c.1439G>T

1 paper

NM_001190737.2

p.D407_P408insFs

c.1221_1222insC

1 paper

NM_001190737.2

p.P404T

c.1210C>A

1 paper

NM_001190737.2

p.P390_P391del2

c.1168_1172del6

1 paper

NM_001190737.2

p.P390_P391delFs

c.1170_1171delGA