Varaico: Literature-Extracted Genetic Variants

Gene:NFIC
Variant:p.L130P

NFIC

290 papers

RefSeq Summary

The protein encoded by this gene belongs to the CTF/NF-I family. These are dimeric DNA-binding proteins, and function as cellular transcription factors and as replication factors for adenovirus DNA re...

Pfam Domains

NfI_DNAbd_pre-Naa 7–47UCSCNuclear factor I protein pre-N-terminus
MH1aa 69–173UCSCMH1 domain
CTF_NFIaa 217–503UCSCCTF/NF-I family transcription modulation region

Gene Aliases

HGNC Name

nuclear factor I C

HGNC Previous Symbol

NFI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001245002.2
p.L130P
c.389T>C
Surrounding Variants
11 papers
NM_001245002.2
p.W128*
c.384G>A
1 paper
NM_001245002.2
p.K126M
c.377A>T
1 paper
NM_001245002.2
p.V135V
c.405C>G
1 paper
NM_001245002.2
p.I136T
c.407T>C
1 paper
NM_001245002.2
p.A124T
c.370G>A
1 paper
NM_001245002.2
p.R122R
c.366G>T
2 papers
NM_001245002.2
p.R122W
c.364C>T
1 paper
NM_001245002.2
p.R122fs
c.364_365fs
1 paper
NM_001245002.2
p.L121_R122delins
c.363_364delinsTT
1 paper
NM_001245002.2
p.L121F
c.361C>T
1 paper
NM_001245002.2
p.R117H
c.350G>A
1 paper
NM_001245002.2
p.R116R
c.348G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."