Varaico: Literature-Extracted Genetic Variants

Gene:F11R
Variant:p.D200H

F11R

73 papers

RefSeq Summary

Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and wat...

Pfam Domains

V-setaa 33–129UCSCImmunoglobulin V-set domain
Ig_3aa 134–216UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

F11 receptor

HGNC Previous Symbol

JAM1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016946.6
p.D200H
c.598G>C
Surrounding Variants
1 paper
NM_016946.6
p.P201R
c.602C>G
1 paper
NM_016946.6
p.V198A
c.593T>C
1 paper
NM_016946.6
p.S203L
c.608C>T
1 paper
NM_016946.6
p.Y218*
c.654T>G
1 paper
NM_016946.6
p.G219E
c.656G>A
1 paper
NM_016946.6
p.L197_V198Splc
c.591+6T>G
1 paper
NM_016946.6
p.P192R
c.575C>G
1 paper
NM_016946.6
p.N185S
c.554A>G
1 paper
NM_016946.6
p.R181H
c.542G>A
1 paper
NM_016946.6
p.V236L
c.706G>C
1 paper
NM_001348091.2
p.G188E
c.563G>A
1 paper
NM_016946.6
p.G237_V238delins
c.711_714delinsATCCCCAGTA
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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."