Varaico: Literature-Extracted Genetic Variants

Gene:ICAM1
Variant:p.S123_W124del2

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.S123_W124del2
c.367_371del6
Surrounding Variants
1 paper
NM_000201.3
p.P122R
c.365C>G
1 paper
NM_000201.3
p.S123P
c.367T>C
1 paper
NM_000201.3
p.S123F
c.368C>T
1 paper
NM_000201.3
p.S123_W124delFs
c.369_370delTT
2 papers
NM_000201.3
p.Q125E
c.373C>G
1 paper
NM_000201.3
p.P120A
c.358C>G
1 paper
NM_000201.3
p.A119T
c.355G>A
1 paper
NM_000201.3
p.A119S
c.355G>T
1 paper
NM_000201.3
p.V127L
c.379G>T
1 paper
NM_000201.3
p.E117E
c.351A>G
1 paper
NM_000201.3
p.G128S
c.382G>A
1 paper
NM_000201.3
p.G128C
c.382G>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."