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

2 papers

NM_001134673.4

p.P365fs

c.1093_1094fs

Surrounding Variants

4 papers

NM_001134673.4

p.P365delFs

c.1094delC

1 paper

NM_001134673.4

p.P361P

c.1083G>A

1 paper

NM_001134673.4

p.P371Q

c.1112C>A

1 paper

NM_001134673.4

p.T372delFs

c.1116delA

1 paper

NM_001134673.4

p.A359Splc

c.1076-6C>T

1 paper

NM_001134673.4

p.S373L

c.1118C>T

1 paper

NM_001134673.4

p.Q378*

c.1132C>T

1 paper

NM_001134673.4

p.Y382_F383delFs

c.1145_1148del4

1 paper

NM_001134673.4

p.P381L

c.1142C>T

1 paper

NM_001134673.4

p.Y382fs

c.1144_1145fs

1 paper

NM_001134673.4

p.Y390C

c.1169A>G

5 papers

NM_001134673.4

p.T395M

c.1184C>T