Varaico: Literature-Extracted Genetic Variants

Gene:VSIG1

VSIG1

15 papers

RefSeq Summary

This gene encodes a member of the junctional adhesion molecule (JAM) family. The encoded protein contains multiple glycosylation sites at the N-terminal region, and multiple phosphorylation sites and ...

Pfam Domains

V-setaa 26–137UCSCImmunoglobulin V-set domain
Ig_3aa 142–215UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

V-set and immunoglobulin domain containing 1

HGNC Alias Symbols

MGC44287; GPA34

Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
1 paper
NM_182607.5
p.I11fs
c.31_32fs
1 paper
NM_182607.5
p.G17S
c.49G>A
1 paper
NM_182607.5
p.W59L
c.176G>T
1 paper
NM_182607.5
p.K64fs
c.190_191fs
1 paper
NM_182607.5
p.R89G
c.265C>G
1 paper
NM_182607.5
p.G126D
c.377G>A
1 paper
NM_182607.5
p.S158T
c.472T>A
1 paper
NM_182607.5
p.V183M
c.547G>A
1 paper
NM_182607.5
p.T272I
c.815C>T
1 paper
NM_182607.5
p.D295_A296ins2
c.885_886ins6
1 paper
NM_182607.5
p.I307V
c.919A>G
1 paper
NM_182607.5
p.P318L
c.953C>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."