Varaico: Literature-Extracted Genetic Variants

NFIA

330 papers

RefSeq Summary

This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, S...

Pfam Domains

NfI_DNAbd_pre-Naa 6–46UCSCNuclear factor I protein pre-N-terminus

MH1aa 68–172UCSCMH1 domain

CTF_NFIaa 214–501UCSCCTF/NF-I family transcription modulation region

Gene Aliases

HGNC Name

nuclear factor I A

HGNC Alias Symbols

NFI-L; KIAA1439

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001134673.4

p.E51fs

c.151_152fs

Surrounding Variants

1 paper

NM_001134673.4

p.E51E

c.153A>G

1 paper

NM_001134673.4

p.K50_E51delFs

c.150_151delAG

1 paper

NM_001134673.4

p.R54_A55delFs

c.160_163del4

1 paper

NM_001134673.4

p.S49_K50delFs

c.147_150del4

1 paper

NM_001134673.4

p.R54fs

c.160_161fs

1 paper

NM_001134673.4

p.R47H

c.140G>A

1 paper

NM_001134673.4

p.V56M

c.166G>A

1 paper

NM_001134673.4

p.K42I

c.125A>T

2 papers

NM_001134673.4

p.K42*

c.124A>T

1 paper

NM_001134673.4

p.F41F

c.123C>T

1 paper

NM_001134673.4

p.F41Y

c.122T>A

1 paper

NM_001134673.4

p.F41delFs

c.123delC