Varaico: Literature-Extracted Genetic Variants

Gene:ICAM1
Variant:p.D399N

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.D399N
c.1195G>A
Surrounding Variants
5 papers
NM_000201.3
p.R397Q
c.1190G>A
1 paper
NM_000201.3
p.D402N
c.1204G>A
2 papers
NM_000201.3
p.P404L
c.1211C>T
1 paper
NM_000201.3
p.S413P
c.1237T>C
1 paper
NM_000201.3
p.Q415_C419del0
c.1243_1257del15
1 paper
NM_000201.3
p.P417Q
c.1250C>A
1 paper
NM_000201.3
p.Q420R
c.1259A>G
1 paper
NM_000201.3
p.W422_L429delFs
c.1265_1286del22
2 papers
NM_000201.3
p.L426S
c.1277T>C
1 paper
NM_000201.3
p.L432V
c.1294C>G
1 paper
NM_000201.3
p.I441I
c.1323C>T
1 paper
NM_000201.3
p.V392I
c.1174G>A
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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."