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.G139R

c.415G>C

Surrounding Variants

1 paper

NM_001134673.4

p.I135V

c.403A>G

1 paper

NM_001134673.4

p.G147_L150del4

c.439_449del12

1 paper

NM_001134673.4

p.E148D

c.444G>C

1 paper

NM_001134673.4

p.E148D

c.444G>T

11 papers

NM_001134673.4

p.R128R

c.384G>A

1 paper

NM_001134673.4

p.L150_V151del2

c.448_452del6

1 paper

NM_001134673.4

p.R128G

c.382A>G

2 papers

NM_001134673.4

p.R128W

c.382A>T

1 paper

NM_001134673.4

p.K125N

c.375A>C

1 paper

NM_001134673.4

p.K125N

c.375A>T

9 papers

NM_001134673.4

p.K125E

c.373A>G

1 paper

NM_001134673.4

p.S153P

c.457T>C