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

1–12 of 185 variants

11 papers

NM_001134673.4

p.R128R

c.384G>A

9 papers

NM_001134673.4

p.K125E

c.373A>G

8 papers

NM_001134673.4

p.R38*

c.112C>T

8 papers

NM_001134673.4

p.R74*

c.220C>T

5 papers

NM_001134673.4

p.T395M

c.1184C>T

4 papers

NM_001134673.4

p.R121C

c.361C>T

4 papers

NM_001134673.4

p.R351*

c.1051C>T

4 papers

NM_001134673.4

p.P365delFs

c.1094delC

3 papers

NM_001134673.4

p.H22Q

c.66C>A

3 papers

NM_001134673.4

p.R24*

c.70C>T

3 papers

NM_001134673.4

p.Q69*

c.205C>T

3 papers

NM_001134673.4

p.R84*

c.250C>T