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

8 papers

NM_001134673.4

p.R74*

c.220C>T

Surrounding Variants

1 paper

NM_001134673.4

p.R74P

c.221G>C

1 paper

NM_001134673.4

p.L75P

c.224T>C

3 papers

NM_001134673.4

p.Q69*

c.205C>T

1 paper

NM_001134673.4

p.R80W

c.238C>T

1 paper

NM_001134673.4

p.E66A

c.197A>C

1 paper

NM_001134673.4

p.I83T

c.248T>C

3 papers

NM_001134673.4

p.R84*

c.250C>T

1 paper

NM_001134673.4

p.S62R

c.186T>A

1 paper

NM_001134673.4

p.S62R

c.186T>G

1 paper

NM_001134673.4

p.S62N

c.185G>A

1 paper

NM_001134673.4

p.S62R

c.184A>C

1 paper

NM_001134673.4

p.L61P

c.182T>C