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.W30*

c.90G>A

Surrounding Variants

1 paper

NM_001134673.4

p.W30*

c.89G>A

1 paper

NM_001134673.4

p.F31fs

c.91_92fs

1 paper

NM_001134673.4

p.W30insFs

c.89dupG

2 papers

NM_001134673.4

p.Q34*

c.100C>T

1 paper

NM_001134673.4

p.A25_F26insFs

c.75_76insA

1 paper

NM_001134673.4

p.R36fs

c.106_107fs

1 paper

NM_001134673.4

p.R36*

c.106C>T

1 paper

NM_001134673.4

p.R36Fs

c.106delinsTGAACCTGTATTGAAGTATTTFs

1 paper

NM_001134673.4

p.R24Q

c.71G>A

4 papers

NM_001134673.4

p.R24*

c.70C>T

NM_001145512.2

p.R69*

c.205C>T

9 papers

NM_001134673.4

p.R38*

c.112C>T

NM_001145512.2

p.R83*

c.247C>T

3 papers

NM_001134673.4

p.H22Q

c.66C>A