Varaico: Literature-Extracted Genetic Variants

Gene:ICAM1
Variant:p.D364H

ICAM1

914 papers

RefSeq Summary

This gene encodes a cell surface glycoprotein which is typically expressed on endothelial cells and cells of the immune system. It binds to integrins of type CD11a / CD18, or CD11b / CD18 and is also ...

Pfam Domains

ICAM_Naa 24–115UCSCIntercellular adhesion molecule (ICAM), N-terminal domain
ICAM1_3_5_D2aa 219–308UCSCICAM-1/3/5, D2 domain
Ig_2aa 312–392UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

intercellular adhesion molecule 1

HGNC Alias Symbols

BB2; CD54

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000201.3
p.D364H
c.1090G>C
Surrounding Variants
2 papers
NM_000201.3
p.D364A
c.1091A>C
1 paper
NM_000201.3
p.E363A
c.1088A>C
3 papers
NM_000201.3
p.R367C
c.1099C>T
1 paper
NM_000201.3
p.R367R
c.1101C>A
1 paper
NM_000201.3
p.F369_S370del2
c.1105_1109del6
1 paper
NM_000201.3
p.K359E
c.1075A>G
1 paper
NM_000201.3
p.S370C
c.1109C>G
1 paper
NM_000201.3
p.T374insFs
c.1122dupC
2 papers
NM_000201.3
p.R353S
c.1059G>C
9 papers
NM_000201.3
p.P352L
c.1055C>T
1 paper
NM_000201.3
p.L381insFs
c.1142dupT
1 paper
NM_000201.3
p.L381fs
c.1141_1142fs
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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."