Varaico: Literature-Extracted Genetic Variants

Gene:NCBP1
Variant:p.K330N

NCBP1

61 papers

RefSeq Summary

The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein promotes ...

Pfam Domains

MIF4Gaa 28–240UCSCMIF4G domain
MIF4G_likeaa 308–471UCSCMIF4G like
MIF4G_like_2aa 485–760UCSCMIF4G like

Gene Aliases

HGNC Name

nuclear cap binding protein subunit 1

HGNC Alias Symbols

CBP80; Sto1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002486.5
p.K330N
c.990G>C
Surrounding Variants
2 papers
NM_002486.5
p.K330N
c.990G>T
1 paper
NM_002486.5
p.D242N
c.724G>A
1 paper
NM_002486.5
p.L359V
c.1075C>G
1 paper
NM_002486.5
p.L362F
c.1084C>T
1 paper
NM_002486.5
p.I377T
c.1130T>C
1 paper
NM_002486.5
p.Q393Q
c.1179G>A
1 paper
NM_002486.5
p.R401H
c.1202G>A
1 paper
NM_002486.5
p.D411N
c.1231G>A
1 paper
NM_002486.5
p.A197D
c.590C>A
1 paper
NM_002486.5
p.R194H
c.581G>A
1 paper
NM_002486.5
p.W430*
c.1289G>A
1 paper
NM_002486.5
p.W430*
c.1290G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."