Varaico: Literature-Extracted Genetic Variants

Gene:ICAM1
Variant:p.C48Y

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.C48Y
c.143G>A
Surrounding Variants
1 paper
NM_000201.3
p.C48*
c.144C>A
1 paper
NM_000201.3
p.T47K
c.140C>A
1 paper
NM_000201.3
p.T47A
c.139A>G
1 paper
NM_000201.3
p.L45L
c.135G>A
1 paper
NM_000201.3
p.S51T
c.151T>A
1 paper
NM_000201.3
p.L45Q
c.134T>A
1 paper
NM_000201.3
p.L45M
c.133C>A
1 paper
NM_000201.3
p.V44L
c.130G>C
1 paper
NM_000201.3
p.V44L
c.130G>T
1 paper
NM_000201.3
p.S43Y
c.128C>A
1 paper
NM_000201.3
p.D53D
c.159C>T
1 paper
NM_000201.3
p.Q54K
c.160C>A
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