Varaico: Literature-Extracted Genetic Variants

Gene:SNAPC2
Variant:p.A231V

SNAPC2

30 papers

RefSeq Summary

This gene encodes a subunit of the snRNA-activating protein complex which is associated with the TATA box-binding protein. The encoded protein is necessary for RNA polymerase II and III dependent smal...

Pfam Domains

SNAPC2aa 3–334UCSCSmall nuclear RNA activating complex (SNAPc), subunit 2

Gene Aliases

HGNC Name

small nuclear RNA activating complex polypeptide 2

HGNC Alias Symbols

SNAP45; PTFdelta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003083.4
p.A231V
c.692C>T
Surrounding Variants
1 paper
NM_003083.4
p.P268R
c.803C>G
1 paper
NM_003083.4
p.G283R
c.847G>A
1 paper
NM_003083.4
p.G283R
c.847G>C
2 papers
NM_003083.4
p.P294insFs
c.881dupC
1 paper
NM_003083.4
p.T292fs
c.874_875fs
1 paper
NM_003083.4
p.A295fs
c.883_884fs
1 paper
NM_003083.4
p.A295fs
c.883_884fs
1 paper
NM_003083.4
p.A299V
c.896C>T
1 paper
NM_003083.4
p.S192S
c.576G>A
1 paper
NM_003083.4
p.E303K
c.907G>A
1 paper
NM_003083.4
p.C314Y
c.941G>A
1 paper
NM_003083.4
p.L325F
c.973C>T
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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."