Varaico: Literature-Extracted Genetic Variants

Gene:F11R
Variant:p.P45H

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.P45H
c.134C>A
Surrounding Variants
1 paper
NM_016946.6
p.C50Y
c.149G>A
1 paper
NM_016946.6
p.V46_A51del0
c.138_152del15
1 paper
NM_016946.6
p.S53L
c.158C>T
1 paper
NM_016946.6
p.F55S
c.164T>C
1 paper
NM_016946.6
p.P58P
c.174C>G
1 paper
NM_016946.6
p.R59C
c.175C>T
1 paper
NM_016946.6
p.V60L
c.178G>C
1 paper
NM_016946.6
p.S57_D65delFs
c.171_193del23
1 paper
NM_016946.6
p.V73L
c.217G>C
1 paper
NM_016946.6
p.N43_N44del1
c.129_131delTTA
1 paper
NM_016946.6
p.N43T
c.128A>C
1 paper
NM_016946.6
p.R39_P41delins
c.116_122delinsC
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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."