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

4 papers

NM_001134673.4

p.R351*

c.1051C>T

Surrounding Variants

1 paper

NM_001134673.4

p.L342P

c.1025T>C

2 papers

NM_001134673.4

p.Q338*

c.1012C>T

1 paper

NM_001134673.4

p.S337insFs

c.1011dupA

1 paper

NM_001134673.4

p.S337fs

c.1009_1010fs

1 paper

NM_001134673.4

p.P336_S337insFs

c.1008_1009dupTT

1 paper

NM_001134673.4

p.P334A

c.1000C>G

1 paper

NM_001134673.4

p.F331Y

c.992T>A

1 paper

NM_001134673.4

p.K328fs

c.982_983fs

1 paper

NM_001134673.4

p.K328_Q338delFs

c.983_1013del31

1 paper

NM_001145512.2

p.S371*

c.1112C>A

1 paper

NM_001134673.4

p.L323Q

c.968T>A