Varaico: Literature-Extracted Genetic Variants

Gene:SNAPC5
Variant:p.E13G

SNAPC5

10 papers

RefSeq Summary

This gene encodes a subunit of the small nuclear RNA (snRNA)-activating protein complex that plays a role in the transcription of snRNA genes. This complex binds to the promoters of snRNA genes transc...

Pfam Domains

SNAPC5aa 1–97UCSCsnRNA-activating protein complex subunit 19, SNAPc subunit 19

Gene Aliases

HGNC Name

small nuclear RNA activating complex polypeptide 5

HGNC Alias Symbol

SNAP19

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001329615.2
p.E13G
c.38A>G
Surrounding Variants
1 paper
NM_001329615.2
p.E13del1
c.37_39delCTC
1 paper
NM_001329615.2
p.E12V
c.35A>T
1 paper
NM_001329615.2
p.A20E
c.59C>A
1 paper
NM_001329615.2
p.D24A
c.71A>C
1 paper
NM_001329615.2
p.S38A
c.112T>G
1 paper
NM_001329615.2
p.I71V
c.211A>G
1 paper
NM_001329615.2
p.L78fs
c.232_233fs
1 paper
NM_001329615.2
p.E94*
c.280G>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."