Varaico: Literature-Extracted Genetic Variants

Gene:VTI1A
Variant:p.L104P

VTI1A

33 papers

RefSeq Summary

The protein encoded by this gene is a member of the family of soluble N-ethylmaleimide-sensitive fusion protein-attachment protein receptors (SNAREs) that function in intracellular trafficking. This f...

Pfam Domains

V-SNAREaa 1–92UCSCVesicle transport v-SNARE protein N-terminus
V-SNARE_Caa 123–188UCSCSnare region anchored in the vesicle membrane C-terminus
V-SNARE_Caa 123–188UCSCSnare region anchored in the vesicle membrane C-terminus

Gene Aliases

HGNC Name

vesicle transport through interaction with t-SNAREs 1A

HGNC Alias Symbols

MVti1; Vti1-rp2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_145206.4
p.L104P
c.311T>C
Surrounding Variants
1 paper
NM_145206.4
p.R100Q
c.299G>A
1 paper
NM_145206.4
p.I93I
c.279C>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."