Varaico: Literature-Extracted Genetic Variants

Gene:SNAPC4
Variant:p.K900E

SNAPC4

105 papers

RefSeq Summary

This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III ...

Pfam Domains

Myb_DNA-bind_6aa 297–357UCSCMyb-like DNA-binding domain
Myb_DNA-bind_6aa 349–410UCSCMyb-like DNA-binding domain
Myb_DNA-bind_6aa 404–464UCSCMyb-like DNA-binding domain
Myb_DNA-bind_6aa 456–512UCSCMyb-like DNA-binding domain

Gene Aliases

HGNC Name

small nuclear RNA activating complex polypeptide 4

HGNC Alias Symbols

SNAP190; PTFalpha; FLJ13451

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_003086.4
p.K900E
c.2698A>G
Surrounding Variants
1 paper
NM_003086.4
p.G885fs
c.2653_2654fs
1 paper
NM_003086.4
p.V915M
c.2743G>A
1 paper
NM_003086.4
p.T884T
c.2652C>T
1 paper
NM_003086.4
p.Q877R
c.2630A>G
2 papers
NM_003086.4
p.Q877*
c.2629C>T
1 paper
NM_003086.4
p.R873H
c.2618G>A
1 paper
NM_003086.4
p.R870P
c.2609G>C
1 paper
NM_003086.4
p.P932A
c.2794C>G
1 paper
NM_003086.4
p.P943L
c.2828C>T
1 paper
NM_003086.4
p.G967V
c.2900G>T
1 paper
NM_003086.4
p.Q1005Q
c.3015A>G
1 paper
NM_003086.4
p.A1031T
c.3091G>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."