Varaico: Literature-Extracted Genetic Variants

Gene:SNAPC2
Variant:p.L153L

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.L153L
c.459C>A
Surrounding Variants
1 paper
NM_003083.4
p.A164T
c.490G>A
1 paper
NM_003083.4
p.T131M
c.392C>T
1 paper
NM_003083.4
p.L126F
c.376C>T
1 paper
NM_003083.4
p.S192S
c.576G>A
1 paper
NM_003083.4
p.A231V
c.692C>T
7 papers
NM_003083.4
p.L118V
c.352C>G
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
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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."